A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649194



Internal ID18947475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176043309..176188955hg38UCSC Ensembl
Innerchr5:175470312..175615958hg19UCSC Ensembl
Innerchr5:175402918..175548564hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38145647
hg19145647
hg18145647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027493
Supporting Variants
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649194
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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