A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019196



Internal ID18761730
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 StatusM
Merged Variantsdgv5577n100
Supporting Variantsnssv3638289
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)nsv1019196
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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