A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022693



Internal ID19111911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120690637..120797095hg38UCSC Ensembl
Innerchr5:120026332..120132790hg19UCSC Ensembl
Innerchr5:120054231..120160689hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38106459
hg19106459
hg18106459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5797n100
Supporting Variantsnssv3647986
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)nsv1022693
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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