A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040870



Internal ID18953006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38967614..38993746hg38UCSC Ensembl
Outerchr22:38955461..38998389hg38UCSC Ensembl
Innerchr22:39363619..39389751hg19UCSC Ensembl
Outerchr22:39351466..39394394hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3842929
hg1942929
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160760
Supporting Variants
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)nssv4040870
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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