A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161117



Internal ID19304006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89899642..89941792hg38UCSC Ensembl
Outerchr4:89898635..89945668hg38UCSC Ensembl
Innerchr4:90820793..90862943hg19UCSC Ensembl
Outerchr4:90819786..90866819hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3847034
hg1947034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029166
Samples
Known GenesMMRN1
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)nsv1161117
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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