A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160672



Internal ID19304532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1566116..1580353hg38UCSC Ensembl
Outerchr20:1564764..1580934hg38UCSC Ensembl
Innerchr20:1546762..1560999hg19UCSC Ensembl
Outerchr20:1545410..1561580hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3816171
hg1916171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040179
Samples
Known GenesSIRPB1
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)nsv1160672
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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