A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3638289



Internal ID18589884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13790651..14187394hg38UCSC Ensembl
Innerchr5:13790760..14187503hg19UCSC Ensembl
Innerchr5:13843760..14240503hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38396744
hg19396744
hg18396744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019196
Supporting Variants
Samples
Known GenesDNAH5, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3638289
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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