A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653995



Internal ID15043961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122850980..122879015hg38UCSC Ensembl
Innerchr12:123335527..123363562hg19UCSC Ensembl
Innerchr12:121901480..121929515hg18UCSC Ensembl
Innerchr12:121860407..121888442hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3828036
hg1928036
hg1828036
hg1728036
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)nssv653995
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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