A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035301



Internal ID15888487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78984709..78985330hg38UCSC Ensembl
Innerchr5:78280532..78281153hg19UCSC Ensembl
Innerchr5:78316288..78316909hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38622
hg19622
hg18622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598738
Supporting Variants
Samples
Known GenesARSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1035301
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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