A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905921



Internal ID4747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182000..206000hg38UCSC Ensembl
chr2:114335556..114359534hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3824001
hg1923979
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422147
Supporting Variants
Samples
Known GenesDDX11L2, FAM138B, WASH2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905921
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.48172


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