A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672825



Internal ID15062791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122850980..122910303hg38UCSC Ensembl
Innerchr12:123335527..123394850hg19UCSC Ensembl
Innerchr12:121901480..121960803hg18UCSC Ensembl
Innerchr12:121860407..121919730hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3859324
hg1959324
hg1859324
hg1759324
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)nssv672825
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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