A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584488



Internal ID16371897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218013595..218055787hg38UCSC Ensembl
Innerchr2:218878318..218920510hg19UCSC Ensembl
Innerchr2:218586563..218628755hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3842193
hg1942193
hg1842193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150829
SamplesHGDP00490
Known GenesRUFY4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584488
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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