A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584760



Internal ID16372169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238147832..238167171hg38UCSC Ensembl
Innerchr2:239056473..239075812hg19UCSC Ensembl
Innerchr2:238721212..238740551hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3819340
hg1919340
hg1819340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933713
Samples
Known GenesKLHL30
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584760
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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