A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600394



Internal ID16041117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178122490..178181194hg38UCSC Ensembl
Innerchr5:177549491..177608195hg19UCSC Ensembl
Innerchr5:177482097..177540801hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3858705
hg1958705
hg1858705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045763
Samples
Known GenesN4BP3, NHP2, RMND5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600394
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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