A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598681



Internal ID16386090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76568162..76606708hg38UCSC Ensembl
Innerchr5:75863987..75902533hg19UCSC Ensembl
Innerchr5:75899743..75938289hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3838547
hg1938547
hg1838547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035142
Samples
Known GenesIQGAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598681
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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