A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1040230



Internal ID15893416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109914929..110023280hg38UCSC Ensembl
Innerchr5:109250630..109358981hg19UCSC Ensembl
Innerchr5:109278529..109386880hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38108352
hg19108352
hg18108352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599340
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1040230
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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