A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584880



Internal ID16372289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240819703..240823751hg38UCSC Ensembl
Innerchr2:241759120..241763168hg19UCSC Ensembl
Innerchr2:241407793..241411841hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384049
hg194049
hg184049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7373n54
Supporting Variantsnssv934082
Samples
Known GenesKIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584880
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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