A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028534



Internal ID19292397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83374392..83467607hg38UCSC Ensembl
Outerchr1:83370028..83471513hg38UCSC Ensembl
Innerchr1:83840075..83933290hg19UCSC Ensembl
Outerchr1:83835711..83937196hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38101486
hg19101486
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161034
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)nssv4028534
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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