A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914065



Internal ID10131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73935760..73935795hg38UCSC Ensembl
chr2:74162887..74162922hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548744
Supporting Variants
Samples
Known GenesDGUOK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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