A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913234



Internal ID9573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62068656..62085316hg38UCSC Ensembl
chr2:62295791..62312451hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3816661
hg1916661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447813
Supporting Variants
Samples
Known GenesCOMMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913234
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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