A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527375



Internal ID15454668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120750806..120758316hg38UCSC Ensembl
Innerchr8:121763046..121770556hg19UCSC Ensembl
Innerchr8:121832227..121839737hg18UCSC Ensembl
Innerchr8:121832227..121839737hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg387511
hg197511
hg187511
hg177511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv472n21
Supporting Variantsnssv703807
Samples
Known GenesSNTB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527375
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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