A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040583



Internal ID19299405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21371709..21491005hg38UCSC Ensembl
Outerchr22:21367431..21491066hg38UCSC Ensembl
Innerchr22:21725998..21845294hg19UCSC Ensembl
Outerchr22:21721720..21845355hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38123636
hg19123636
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160729
Supporting Variants
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
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)nssv4040583
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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