A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514292



Internal ID15812705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17348139..17354901hg38UCSC Ensembl
Innerchr5:17348248..17355010hg19UCSC Ensembl
Innerchr5:17401248..17408010hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386763
hg196763
hg186763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2911735, nssv2911738, nssv2911737, nssv2911739, nssv2911736, nssv2911740
SamplesNA07346, NA07019, NA12828, NA07022, NA12145, NA12817
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514292
Frequency
Sample Size2366
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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