A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598754



Internal ID16386163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82120486..82130757hg38UCSC Ensembl
Innerchr5:81416305..81426576hg19UCSC Ensembl
Innerchr5:81452061..81462332hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3810272
hg1910272
hg1810272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035311, nssv1035310
Samples
Known GenesATG10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598754
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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