A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027246



Internal ID18944423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:60650426..60803114hg38UCSC Ensembl
Outerchr1:60647995..60807507hg38UCSC Ensembl
Innerchr1:61116098..61268786hg19UCSC Ensembl
Outerchr1:61113667..61273179hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38159513
hg19159513
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160856
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)nssv4027246
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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