A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160782



Internal ID18956406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50478795..50564071hg38UCSC Ensembl
Outerchr22:50463961..50571524hg38UCSC Ensembl
Innerchr22:50917224..51002500hg19UCSC Ensembl
Outerchr22:50902390..51009953hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38107564
hg19107564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040907
Samples
Known GenesADM2, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, ODF3B, SBF1, SCO2, SYCE3, TYMP
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)nsv1160782
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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