A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549093



Internal ID16336502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207783214..207794395hg38UCSC Ensembl
Innerchr1:207956559..207967740hg19UCSC Ensembl
Innerchr1:206023182..206034363hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3811182
hg1911182
hg1811182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736028
Samples
Known GenesCD46
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549093
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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