A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681786



Internal ID15071752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798450..14187910hg38UCSC Ensembl
Innerchr5:13798559..14188019hg19UCSC Ensembl
Innerchr5:13851559..14241019hg18UCSC Ensembl
Innerchr5:13851559..14241019hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38389461
hg19389461
hg18389461
hg17389461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516415
Supporting Variants
Samples
Known GenesDNAH5, TRIO
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681786
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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