A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599528



Internal ID16386937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118307640..118444367hg38UCSC Ensembl
Innerchr5:117643335..117780062hg19UCSC Ensembl
Innerchr5:117671234..117807961hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38136728
hg19136728
hg18136728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10038n54
Supporting Variantsnssv1040740
Samples
Known GenesLOC101927280
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599528
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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