A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585926



Internal ID16026649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33152998..33229798hg38UCSC Ensembl
Innerchr20:31740804..31817604hg19UCSC Ensembl
Innerchr20:31204465..31281265hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3876801
hg1976801
hg1876801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152384
Samples1798860570_A
Known GenesBPIFA2, BPIFA3, BPIFA4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585926
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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