A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036537



Internal ID18941950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6602667..6626149hg38UCSC Ensembl
Outerchr8:6602062..6630317hg38UCSC Ensembl
Innerchr8:6460188..6483670hg19UCSC Ensembl
Outerchr8:6459583..6487838hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3828256
hg1928256
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161706
Supporting Variants
Samples
Known GenesMCPH1, MIR8055
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)nssv4036537
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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