A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016494



Internal ID18759029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130133708..131222639hg38UCSC Ensembl
Innerchr8:131145954..132234886hg19UCSC Ensembl
Innerchr8:131215136..132304068hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg381088932
hg191088933
hg181088933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757369
Samples
Known GenesADCY8, ASAP1, ASAP1-IT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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