A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv661598



Internal ID15051564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76366946..76463063hg38UCSC Ensembl
Innerchr12:76760726..76856843hg19UCSC Ensembl
Innerchr12:75284857..75380974hg18UCSC Ensembl
Innerchr12:75263194..75359311hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3896118
hg1996118
hg1896118
hg1796118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520195
Supporting Variants
Samples
Known GenesOSBPL8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv661598
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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