A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557000



Internal ID15997723
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 StatusM
Merged Variants
Supporting Variantsnssv786385
Samples
Known GenesCACNA2D4, LINC00940
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557000
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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