A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037024



Internal ID19289123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:105700102..105748490hg38UCSC Ensembl
Outerchr8:105693387..105755230hg38UCSC Ensembl
Innerchr8:106712330..106760718hg19UCSC Ensembl
Outerchr8:106705615..106767458hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3861844
hg1961844
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161786
Supporting Variants
Samples
Known GenesZFPM2
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)nssv4037024
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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