A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036981



Internal ID19289080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68618945..68710040hg38UCSC Ensembl
Outerchr8:68613545..68718457hg38UCSC Ensembl
Innerchr8:69531180..69622275hg19UCSC Ensembl
Outerchr8:69525780..69630692hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38104913
hg19104913
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161769
Supporting Variants
Samples
Known GenesC8orf34
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)nssv4036981
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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