A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598181



Internal ID16038904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55329378..55372703hg38UCSC Ensembl
Innerchr5:54625206..54668531hg19UCSC Ensembl
Innerchr5:54660963..54704288hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3843326
hg1943326
hg1843326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030367
Samples
Known GenesSKIV2L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598181
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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