A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161783



Internal ID19303072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99565665..99673555hg38UCSC Ensembl
Outerchr8:99563601..99684467hg38UCSC Ensembl
Innerchr8:100577893..100685783hg19UCSC Ensembl
Outerchr8:100575829..100696695hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38120867
hg19120867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037021
Samples
Known GenesVPS13B
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)nsv1161783
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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