A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599603



Internal ID16387012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120617834..120981340hg38UCSC Ensembl
Innerchr5:119953529..120317035hg19UCSC Ensembl
Innerchr5:119981428..120344934hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38363507
hg19363507
hg18363507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1031979
Samples
Known GenesPRR16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599603
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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