A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021198



Internal ID18763732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177959266..178184647hg38UCSC Ensembl
Innerchr5:177386267..177611648hg19UCSC Ensembl
Innerchr5:177318873..177544254hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38225382
hg19225382
hg18225382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5844n100
Supporting Variantsnssv3649287
Samples
Known GenesFAM153C, GMCL1P1, N4BP3, NHP2, PROP1, RMND5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021198
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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