A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786385



Internal ID15733655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1899382..1936474hg38UCSC Ensembl
Innerchr12:2008548..2045640hg19UCSC Ensembl
Innerchr12:1878809..1915901hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3837093
hg1937093
hg1837093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557000
Supporting Variants
Samples
Known GenesCACNA2D4, LINC00940
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv786385
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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