A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515829



Internal ID15442886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70047205..70176436hg38UCSC Ensembl
Innerchr12:70440985..70570216hg19UCSC Ensembl
Innerchr12:68727252..68856483hg18UCSC Ensembl
Innerchr12:68727252..68856483hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38129232
hg19129232
hg18129232
hg17129232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv664914, nssv688258
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515829
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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