A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584727



Internal ID16025450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237334649..237351967hg38UCSC Ensembl
Innerchr2:238243292..238260610hg19UCSC Ensembl
Innerchr2:237908031..237925349hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3817319
hg1917319
hg1817319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933655
Samples
Known GenesCOL6A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584727
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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