A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597312



Internal ID16038035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17214792..17225224hg38UCSC Ensembl
Innerchr5:17214901..17225333hg19UCSC Ensembl
Innerchr5:17267901..17278333hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3810433
hg1910433
hg1810433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026291
Samples
Known GenesBASP1, LOC285696
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597312
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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