A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689264



Internal ID112930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76120944..76247605hg38UCSC Ensembl
chr12:76514724..76641385hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38126662
hg19126662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508832
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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