A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593450



Internal ID16034173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3403438..3449382hg38UCSC Ensembl
Innerchr4:3405165..3451109hg19UCSC Ensembl
Innerchr4:3374963..3420907hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3845945
hg1945945
hg1845945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8926n54
Supporting Variantsnssv1152577
SamplesHGDP01191
Known GenesHGFAC, RGS12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593450
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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