A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517202



Internal ID15097809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99601928..99614995hg38UCSC Ensembl
Innerchr12:99995706..100008773hg19UCSC Ensembl
Innerchr12:98519837..98532904hg18UCSC Ensembl
Innerchr12:98498174..98511241hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3813068
hg1913068
hg1813068
hg1713068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv660666, nssv673371, nssv673528, nssv651979, nssv679374, nssv684194, nssv688278, nssv653998, nssv684668, nssv653448, nssv686290, nssv662121, nssv653112, nssv654070, nssv652974, nssv652526, nssv657235, nssv684743, nssv696413, nssv689234, nssv693347, nssv675255, nssv688393, nssv684823, nssv660779, nssv681641
Samples
Known GenesANKS1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517202
Frequency
Sample Size2026
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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