A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597320



Internal ID16384729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17347597..17356505hg38UCSC Ensembl
Innerchr5:17347706..17356614hg19UCSC Ensembl
Innerchr5:17400706..17409614hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg388909
hg198909
hg188909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9623n54
Supporting Variantsnssv1026309, nssv1026319, nssv1026325, nssv1026310, nssv1026329, nssv1026327, nssv1026328, nssv1026330, nssv1026332, nssv1026321, nssv1026322, nssv1026316, nssv1026326, nssv1026333, nssv1026315, nssv1026312, nssv1026331, nssv1026313, nssv1026318, nssv1026320, nssv1026314, nssv1026311, nssv1026323, nssv1026317, nssv1026324
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597320
Frequency
Sample Size17421
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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