A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040902



Internal ID18953038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44611468..44685486hg38UCSC Ensembl
Outerchr22:44606668..44692090hg38UCSC Ensembl
Innerchr22:45007348..45081366hg19UCSC Ensembl
Outerchr22:45002548..45087970hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3885423
hg1985423
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160777
Supporting Variants
Samples
Known GenesLINC00229, PRR5
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)nssv4040902
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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