A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3638294



Internal ID18589889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798710..14182441hg38UCSC Ensembl
Innerchr5:13798819..14182550hg19UCSC Ensembl
Innerchr5:13851819..14235550hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38383732
hg19383732
hg18383732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017356
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)nssv3638294
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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