A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599654



Internal ID16387063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:124240169..124281605hg38UCSC Ensembl
Innerchr5:123575862..123617298hg19UCSC Ensembl
Innerchr5:123603761..123645197hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3841437
hg1941437
hg1841437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032085
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599654
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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