A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv658215



Internal ID15048181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13798450..14182441hg38UCSC Ensembl
Innerchr5:13798559..14182550hg19UCSC Ensembl
Innerchr5:13851559..14235550hg18UCSC Ensembl
Innerchr5:13851559..14235550hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38383992
hg19383992
hg18383992
hg17383992
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)nssv658215
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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