Norwegian Variant Frequency Database

Insertion: X-128598575-A-AGT

Information
Location (GRCh38) chrX:128598575-128598575
Allele Count64
Allele Frequency0.025
gnomAD browserSearch in gnomAD
dbSNP IDrs35451691
Gene symbolAL008633.1
Ensembl gene IDENSG00000225689
Ensembl transcript IDENST00000657074
HGVScENST00000657074.1:n.3195+1734_3195+1735dup
Variant classinsertion
Primary consequenceintron_variant&non_coding_transcript_variant
Alternate alleles at this location
Variant IDCountFrequency
X-128598575-AGT-A 738 0.272
X-128598575-AGTGT-A 433 0.154
X-128598575-AGTGTGT-A 504 0.181
X-128598575-AGTGTGTGT-A 115 0.047
X-128598575-AGTGTGTGTGT-A 600 0.218

About this site

This site is set up to serve as a national, anonymous database, covering sequence variant frequencies of the Norwegian population according to the Commissioner’s documents in 2017, from the Norwegian Ministry of Health and Care Services to the Regional Health Authorities.

The site currently contains variant frequency data, dataset v1.1, for a total of 2855 unrelated individuals from the following two sources: a whole genome sample set of variation derived from 1366 biobanked individuals with self-reported overrepresentation of cancer in the family. A further set of 1489 samples is also included, containing sequence variation that has been examined in the context of genetic counseling for various diseases. Thus, the current data set is likely to contain some biases in this context.

The data will be under continuous revision, both for quality and quantity, to achieve a broad, national representation. The data are available as is, with no warranties, implied or expressed. Functionality will be updated and improved over time. The current reference version of the genome is GRCh38.

The site is intended as a look-up service for the health care services, and is not intended for bulk download.