A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689263



Internal ID112929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76101277..76105624hg38UCSC Ensembl
chr12:76495057..76499404hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499104
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689263
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007183


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