A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582213



Internal ID16022936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73893658..73902347hg38UCSC Ensembl
Innerchr2:74120785..74129474hg19UCSC Ensembl
Innerchr2:73974293..73982982hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg388690
hg198690
hg188690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv912190
Samples
Known GenesACTG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582213
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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