A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516230



Internal ID15096837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1899382..1899633hg38UCSC Ensembl
Innerchr12:2008548..2008799hg19UCSC Ensembl
Innerchr12:1878809..1879060hg18UCSC Ensembl
Innerchr12:1878809..1879060hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
hg17252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv660619, nssv666966
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516230
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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