A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663698



Internal ID15053664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76366946..76516167hg38UCSC Ensembl
Innerchr12:76760726..76909947hg19UCSC Ensembl
Innerchr12:75284857..75434078hg18UCSC Ensembl
Innerchr12:75263194..75412415hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38149222
hg19149222
hg18149222
hg17149222
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)nssv663698
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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