A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517493



Internal ID15098100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97752565..97776258hg38UCSC Ensembl
Innerchr8:98764793..98788486hg19UCSC Ensembl
Innerchr8:98833969..98857662hg18UCSC Ensembl
Innerchr8:98833969..98857662hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3823694
hg1923694
hg1823694
hg1723694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683356, nssv674109, nssv668606, nssv687421, nssv682504, nssv688080, nssv667539, nssv681846, nssv652187, nssv674186, nssv657014, nssv688803
Samples
Known GenesLAPTM4B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517493
Frequency
Sample Size2026
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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