A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582193



Internal ID16369602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70816329..70828967hg38UCSC Ensembl
Innerchr2:71043461..71056098hg19UCSC Ensembl
Innerchr2:70896969..70909606hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3812639
hg1912638
hg1812638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150727
SamplesHGDP00991
Known GenesCLEC4F
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582193
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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