A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027124



Internal ID19290987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43020953..43042227hg38UCSC Ensembl
Outerchr1:43012935..43045974hg38UCSC Ensembl
Innerchr1:43486624..43507898hg19UCSC Ensembl
Outerchr1:43478606..43511645hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3833040
hg1933040
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160845
Supporting Variants
Samples
Known Genes
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)nssv4027124
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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