A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594207



Internal ID16381616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57121267..57232388hg38UCSC Ensembl
Innerchr4:57987433..58098554hg19UCSC Ensembl
Innerchr4:57682190..57793311hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38111122
hg19111122
hg18111122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998043
Samples
Known GenesIGFBP7-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594207
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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