A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682197



Internal ID15072163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76286580..76361646hg38UCSC Ensembl
Innerchr12:76680360..76755426hg19UCSC Ensembl
Innerchr12:75204491..75279557hg18UCSC Ensembl
Innerchr12:75182828..75257894hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3875067
hg1975067
hg1875067
hg1775067
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)nssv682197
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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