A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1029141



Internal ID15535641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42610307..42854306hg38UCSC Ensembl
Innerchr5:42610409..42854408hg19UCSC Ensembl
Innerchr5:42646166..42890165hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38244000
hg19244000
hg18244000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597886
Supporting Variants
Samples
Known GenesCCDC152, GHR, SEPP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1029141
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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