A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021299



Internal ID19110516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:153357054..153476739hg38UCSC Ensembl
Innerchr5:152736614..152856299hg19UCSC Ensembl
Innerchr5:152716807..152836492hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38119686
hg19119686
hg18119686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648188
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021299
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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