A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024519



Internal ID18767051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175932998..176192510hg38UCSC Ensembl
Innerchr5:175360001..175619513hg19UCSC Ensembl
Innerchr5:175292607..175552119hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38259513
hg19259513
hg18259513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5833n100
Supporting Variantsnssv3649149
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, THOC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024519
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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