A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600228



Internal ID16387637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:164397952..164456149hg38UCSC Ensembl
Innerchr5:163824958..163883155hg19UCSC Ensembl
Innerchr5:163757536..163815733hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3858198
hg1958198
hg1858198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153111
Samples1798860114_A
Known GenesLOC101927835
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600228
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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