A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581247



Internal ID16368656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29011119..29035327hg38UCSC Ensembl
Innerchr2:29233985..29258193hg19UCSC Ensembl
Innerchr2:29087489..29111697hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3824209
hg1924209
hg1824209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904595
Samples
Known GenesFAM179A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581247
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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