A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598306



Internal ID16039029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60833534..60971048hg38UCSC Ensembl
Innerchr5:60129361..60266875hg19UCSC Ensembl
Innerchr5:60165118..60302632hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38137515
hg19137515
hg18137515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9811n54
Supporting Variantsnssv1034186, nssv1034185, nssv1034184, nssv1034183
Samples
Known GenesELOVL7, ERCC8, NDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598306
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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