A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517213



Internal ID15444506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1958464..1964968hg38UCSC Ensembl
Innerchr8:1906630..1913134hg19UCSC Ensembl
Innerchr8:1894037..1900541hg18UCSC Ensembl
Innerchr8:1894037..1900541hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg386505
hg196505
hg186505
hg176505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693450, nssv675712, nssv678311, nssv678610, nssv667953, nssv681728, nssv682717, nssv683296, nssv683095, nssv651897, nssv690296, nssv671070, nssv662570, nssv692018, nssv656851, nssv692271, nssv654025, nssv691343, nssv656904, nssv667302
Samples
Known GenesARHGEF10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517213
Frequency
Sample Size2026
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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