A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025478



Internal ID19114696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140625507..140736356hg38UCSC Ensembl
Innerchr8:141635606..141746455hg19UCSC Ensembl
Innerchr8:141704788..141815637hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38110850
hg19110850
hg18110850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757500
Samples
Known GenesAGO2, PTK2, RNU6-31P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025478
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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