A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598748



Internal ID16039471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80960061..80961039hg38UCSC Ensembl
Innerchr5:80255880..80256858hg19UCSC Ensembl
Innerchr5:80291636..80292614hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38979
hg19979
hg18979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035307
Samples
Known GenesLOC102524628, RASGRF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598748
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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