A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902494



Internal ID2476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1691988..1751594hg38UCSC Ensembl
chr1:1623427..1683033hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3859607
hg1959607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138123
Supporting Variants
Samples
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2, SLC35E2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902494
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.021947


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