A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161936



Internal ID18957220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:30116476..31077364hg38UCSC Ensembl
Outerchr10:30113251..31078102hg38UCSC Ensembl
Innerchr10:30405405..31366293hg19UCSC Ensembl
Outerchr10:30402180..31367031hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38964852
hg19964852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038116
Samples
Known GenesLYZL2, MAP3K8, MIR7162, MTPAP, SVILP1, ZNF438
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)nsv1161936
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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