A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694311



Internal ID15084277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79055689..79172181hg38UCSC Ensembl
Innerchr5:78351512..78468004hg19UCSC Ensembl
Innerchr5:78387268..78503760hg18UCSC Ensembl
Innerchr5:78387268..78503760hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38116493
hg19116493
hg18116493
hg17116493
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519156
Supporting Variants
Samples
Known GenesBHMT, BHMT2, DMGDH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694311
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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