A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599541



Internal ID16386950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118533479..118714081hg38UCSC Ensembl
Innerchr5:117869174..118049776hg19UCSC Ensembl
Innerchr5:117897073..118077675hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38180603
hg19180603
hg18180603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040759
Samples
Known GenesLOC101927280, LOC102467225
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599541
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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