A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1024153



Internal ID16318109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9545691..9546339hg38UCSC Ensembl
Innerchr5:9545803..9546451hg19UCSC Ensembl
Innerchr5:9598803..9599451hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38649
hg19649
hg18649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597081
Supporting Variants
Samples
Known GenesSEMA5A, SNHG18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1024153
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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