A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040873



Internal ID18953009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40520378..40727791hg38UCSC Ensembl
Outerchr22:40515733..40728482hg38UCSC Ensembl
Innerchr22:40916382..41123795hg19UCSC Ensembl
Outerchr22:40911737..41124486hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38212750
hg19212750
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160763
Supporting Variants
Samples
Known GenesMCHR1, MKL1
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)nssv4040873
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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