A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689565



Internal ID18641160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:74162703..74364668hg38UCSC Ensembl
Innerchr8:75074938..75276903hg19UCSC Ensembl
Innerchr8:75237492..75439458hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38201966
hg19201966
hg18201967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032322
Supporting Variants
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)nssv3689565
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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