A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1028959



Internal ID15535459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36997851..37147050hg38UCSC Ensembl
Innerchr5:36997953..37147152hg19UCSC Ensembl
Innerchr5:37033710..37182909hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38149200
hg19149200
hg18149200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597822
Supporting Variants
Samples
Known GenesC5orf42, NIPBL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1028959
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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