A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597274



Internal ID16384683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:15719502..15720647hg38UCSC Ensembl
Innerchr5:15719611..15720756hg19UCSC Ensembl
Innerchr5:15772611..15773756hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381146
hg191146
hg181146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9613n54
Supporting Variantsnssv1026096, nssv1026095, nssv1026097, nssv1026094, nssv1026093, nssv1026098
Samples
Known GenesFBXL7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597274
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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