A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559538



Internal ID16346947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81825315..81882344hg38UCSC Ensembl
Innerchr12:82219094..82276123hg19UCSC Ensembl
Innerchr12:80743225..80800254hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3857030
hg1957030
hg1857030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176311
SamplesHGDP01100
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559538
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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