A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696012



Internal ID15432664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120750446..120758316hg38UCSC Ensembl
Innerchr8:121762686..121770556hg19UCSC Ensembl
Innerchr8:121831867..121839737hg18UCSC Ensembl
Innerchr8:121831867..121839737hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg387871
hg197871
hg187871
hg177871
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518569
Supporting Variants
Samples
Known GenesSNTB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696012
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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