A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016282



Internal ID18758817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140453461..140537127hg38UCSC Ensembl
Innerchr8:141463560..141547226hg19UCSC Ensembl
Innerchr8:141532742..141616408hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3883667
hg1983667
hg1883667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3690075
Samples
Known GenesAGO2, CHRAC1, TRAPPC9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016282
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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