A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909121



Internal ID6869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12763296..12763352hg38UCSC Ensembl
chr2:12903422..12903478hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443870
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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