A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161025



Internal ID18957691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:16700..52496hg38UCSC Ensembl
Outerchr4:13290..59179hg38UCSC Ensembl
Innerchr4:16700..52390hg19UCSC Ensembl
Outerchr4:13290..59072hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3845890
hg1945783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028511
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)nsv1161025
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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