A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596626



Internal ID16037349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:429874..598109hg38UCSC Ensembl
Innerchr5:429989..598224hg19UCSC Ensembl
Innerchr5:482989..651224hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38168236
hg19168236
hg18168236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153278
SamplesHGDP00428
Known GenesAHRR, C5orf55, EXOC3, MIR4456, PP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596626
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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