A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526444



Internal ID15453737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140630195..141027810hg38UCSC Ensembl
Innerchr8:141640294..142037909hg19UCSC Ensembl
Innerchr8:141709476..142107091hg18UCSC Ensembl
Innerchr8:141709476..142107091hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38397616
hg19397616
hg18397616
hg17397616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702747
Samples
Known GenesAGO2, PTK2, RNU6-31P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526444
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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