A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016431



Internal ID18758966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:74148885..74486140hg38UCSC Ensembl
Innerchr8:75061120..75398375hg19UCSC Ensembl
Innerchr8:75223674..75560930hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38337256
hg19337256
hg18337257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689564
Samples
Known GenesGDAP1, JPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016431
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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