A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518786



Internal ID15099393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1888878..1907156hg38UCSC Ensembl
Innerchr12:1998044..2016322hg19UCSC Ensembl
Innerchr12:1868305..1886583hg18UCSC Ensembl
Innerchr12:1868305..1886583hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3818279
hg1918279
hg1818279
hg1718279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696240
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518786
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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