A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599491



Internal ID16386900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117951136..118040608hg38UCSC Ensembl
Innerchr5:117286831..117376303hg19UCSC Ensembl
Innerchr5:117314730..117404202hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3889473
hg1989473
hg1889473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040577
Samples
Known GenesLOC102467224
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599491
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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