A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040574



Internal ID19299396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15552149..15925481hg38UCSC Ensembl
Outerchr22:15533096..15925481hg38UCSC Ensembl
Innerchr22:16052528..16425814hg19UCSC Ensembl
Outerchr22:16052528..16444867hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38392386
hg19392340
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160720
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, POTEH
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)nssv4040574
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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