A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027003



Internal ID18769535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130789394..131152264hg38UCSC Ensembl
Innerchr5:130125087..130487957hg19UCSC Ensembl
Innerchr5:130152986..130515856hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38362871
hg19362871
hg18362871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5808n100
Supporting Variantsnssv3648111
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)nsv1027003
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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