A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160678



Internal ID18956016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43434312..43468584hg38UCSC Ensembl
Outerchr20:43432173..43469618hg38UCSC Ensembl
Innerchr20:42062952..42097224hg19UCSC Ensembl
Outerchr20:42060813..42098258hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg3837446
hg1937446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040282
Samples
Known GenesSRSF6
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)nsv1160678
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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