A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556999



Internal ID15997722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1839781..1872284hg38UCSC Ensembl
Innerchr12:1948947..1981450hg19UCSC Ensembl
Innerchr12:1819208..1851711hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3832504
hg1932504
hg1832504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786384
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556999
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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