A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160759



Internal ID18955878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38967614..38979302hg38UCSC Ensembl
Outerchr22:38955461..38993623hg38UCSC Ensembl
Innerchr22:39363619..39375307hg19UCSC Ensembl
Outerchr22:39351466..39389628hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3838163
hg1938163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172n111
Supporting Variantsnssv4040858, nssv4040850, nssv4040863, nssv4040843, nssv4040859, nssv4040832, nssv4040841, nssv4040834, nssv4040860, nssv4040853, nssv4040868, nssv4040852, nssv4040842, nssv4040835, nssv4040839, nssv4040838, nssv4040829, nssv4040846, nssv4040844, nssv4040828, nssv4040833, nssv4040847, nssv4040836, nssv4040840, nssv4040854, nssv4040857, nssv4040866, nssv4040831, nssv4040861, nssv4040855, nssv4040837, nssv4040848, nssv4040865, nssv4040862, nssv4040849, nssv4040867, nssv4040830, nssv4040864, nssv4040851, nssv4040856, nssv4040845
Samples
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1160759
Frequency
Sample Size369
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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