A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040772



Internal ID19299594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32557449..32564025hg38UCSC Ensembl
Outerchr22:32555485..32565901hg38UCSC Ensembl
Innerchr22:32953435..32960011hg19UCSC Ensembl
Outerchr22:32951471..32961887hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3810417
hg1910417
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160750
Supporting Variants
Samples
Known GenesSYN3
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)nssv4040772
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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