A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700686



Internal ID15437338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115901484..115909655hg38UCSC Ensembl
Innerchr12:116339289..116347460hg19UCSC Ensembl
Innerchr12:114823672..114831843hg18UCSC Ensembl
Innerchr12:114802009..114810180hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg388172
hg198172
hg188172
hg178172
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524703
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700686
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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