A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160680



Internal ID18957302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151467..47160290hg38UCSC Ensembl
Outerchr20:47148347..47161314hg38UCSC Ensembl
Innerchr20:45780106..45788929hg19UCSC Ensembl
Outerchr20:45776986..45789953hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812968
hg1912968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv162n111
Supporting Variantsnssv4040296, nssv4040295, nssv4040293, nssv4040285, nssv4040284, nssv4040291, nssv4040292, nssv4040286, nssv4040294, nssv4040290, nssv4040288, nssv4040289, nssv4040287
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)nsv1160680
Frequency
Sample Size369
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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