A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160777



Internal ID18957632
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040902
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)nsv1160777
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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