A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040297



Internal ID18952433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151467..47162322hg38UCSC Ensembl
Outerchr20:47148347..47163335hg38UCSC Ensembl
Innerchr20:45780106..45790961hg19UCSC Ensembl
Outerchr20:45776986..45791975hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3814989
hg1914990
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160681
Supporting Variants
Samples
Known GenesEYA2
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)nssv4040297
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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