A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594647



Internal ID16035370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70296786..70399455hg38UCSC Ensembl
Innerchr4:71162503..71265172hg19UCSC Ensembl
Innerchr4:71197092..71299761hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38102670
hg19102670
hg18102670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9127n54
Supporting Variantsnssv1152932
SamplesHGDP00615
Known GenesCABS1, PROL1, SMR3A, SMR3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594647
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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