A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584799



Internal ID16372208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239723213..239762101hg38UCSC Ensembl
Innerchr2:240644907..240683795hg19UCSC Ensembl
Innerchr2:240309844..240348732hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3838889
hg1938889
hg1838889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151185
Samples1780862416_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584799
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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