A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160882



Internal ID19304035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:163786978..163788616hg38UCSC Ensembl
Outerchr2:163780342..163790132hg38UCSC Ensembl
Innerchr2:164643488..164645126hg19UCSC Ensembl
Outerchr2:164636852..164646642hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg389791
hg199791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027489, nssv4027481, nssv4027483, nssv4027482, nssv4027491, nssv4027486, nssv4027484, nssv4027480, nssv4027478, nssv4027487, nssv4027488, nssv4027485
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)nsv1160882
Frequency
Sample Size369
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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