A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040879



Internal ID19299701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501276..42554485hg38UCSC Ensembl
Outerchr22:42496590..42559425hg38UCSC Ensembl
Innerchr22:42897282..42950491hg19UCSC Ensembl
Outerchr22:42892596..42955431hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3862836
hg1962836
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160769
Supporting Variants
Samples
Known GenesRRP7A, SERHL, SERHL2
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)nssv4040879
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer