A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518562



Internal ID15445855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120750446..120750806hg38UCSC Ensembl
Innerchr8:121762686..121763046hg19UCSC Ensembl
Innerchr8:121831867..121832227hg18UCSC Ensembl
Innerchr8:121831867..121832227hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38361
hg19361
hg18361
hg17361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696005
Samples
Known GenesSNTB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518562
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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