A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691259



Internal ID15081225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76299930..76366946hg38UCSC Ensembl
Innerchr12:76693710..76760726hg19UCSC Ensembl
Innerchr12:75217841..75284857hg18UCSC Ensembl
Innerchr12:75196178..75263194hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3867017
hg1967017
hg1867017
hg1767017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520195
Supporting Variants
Samples
Known GenesBBS10, OSBPL8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691259
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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