A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3638291



Internal ID18589886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798710..14170135hg38UCSC Ensembl
Innerchr5:13798819..14170244hg19UCSC Ensembl
Innerchr5:13851819..14223244hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38371426
hg19371426
hg18371426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024836
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)nssv3638291
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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