A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599490



Internal ID16386899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117783103..117905795hg38UCSC Ensembl
Innerchr5:117118798..117241490hg19UCSC Ensembl
Innerchr5:117146697..117269389hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38122693
hg19122693
hg18122693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040576
Samples
Known GenesLOC102467224
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599490
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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