A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598305



Internal ID16039028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60820786..61013009hg38UCSC Ensembl
Innerchr5:60116613..60308836hg19UCSC Ensembl
Innerchr5:60152370..60344593hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38192224
hg19192224
hg18192224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9810n54
Supporting Variantsnssv1034182
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)nsv598305
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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