A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599568



Internal ID16386977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119863570..120078894hg38UCSC Ensembl
Innerchr5:119199265..119414589hg19UCSC Ensembl
Innerchr5:119227164..119442488hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38215325
hg19215325
hg18215325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040906
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599568
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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