A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027636



Internal ID18944813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:236063..244340hg38UCSC Ensembl
Outerchr3:235990..247092hg38UCSC Ensembl
Innerchr3:277746..286023hg19UCSC Ensembl
Outerchr3:277673..288775hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3811103
hg1911103
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160911
Supporting Variants
Samples
Known GenesCHL1
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)nssv4027636
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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