A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594648



Internal ID16035371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70296786..70402393hg38UCSC Ensembl
Innerchr4:71162503..71268110hg19UCSC Ensembl
Innerchr4:71197092..71302699hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38105608
hg19105608
hg18105608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9127n54
Supporting Variantsnssv1002280, nssv1002282, nssv1002283, nssv1002284, nssv1002281
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)nsv594648
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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