A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv656945



Internal ID15046911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122850980..122912014hg38UCSC Ensembl
Innerchr12:123335527..123396561hg19UCSC Ensembl
Innerchr12:121901480..121962514hg18UCSC Ensembl
Innerchr12:121860407..121921441hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3861035
hg1961035
hg1861035
hg1761035
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517200
Supporting Variants
Samples
Known GenesHIP1R, VPS37B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv656945
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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