A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017421



Internal ID18759955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172653521..172726439hg38UCSC Ensembl
Innerchr5:172080524..172153442hg19UCSC Ensembl
Innerchr5:172013129..172086047hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3872919
hg1972919
hg1872919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5831n100
Supporting Variantsnssv3649131
Samples
Known GenesNEURL1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017421
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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