A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594650



Internal ID16035373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70299655..70430316hg38UCSC Ensembl
Innerchr4:71165372..71296033hg19UCSC Ensembl
Innerchr4:71199961..71330622hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38130662
hg19130662
hg18130662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9127n54
Supporting Variantsnssv1002288, nssv1002287
Samples
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)nsv594650
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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