A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032781



Internal ID18775315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42917251..43606341hg38UCSC Ensembl
Innerchr8:42772394..43461484hg19UCSC Ensembl
Innerchr8:42891551..43580641hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38689091
hg19689091
hg18689091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3687267
Samples
Known GenesFNTA, HGSNAT, HOOK3, POMK, POTEA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032781
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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