A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161024



Internal ID18956653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12281..69821hg38UCSC Ensembl
Outerchr4:12281..71528hg38UCSC Ensembl
Innerchr4:12281..69713hg19UCSC Ensembl
Outerchr4:12281..71420hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3859248
hg1959140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv186n111
Supporting Variantsnssv4028510
Samples
Known GenesZNF595, ZNF718
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)nsv1161024
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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