A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159992



Internal ID19302991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27942560..27944711hg38UCSC Ensembl
Outerchr12:27941988..27950527hg38UCSC Ensembl
Innerchr12:28095493..28097644hg19UCSC Ensembl
Outerchr12:28094921..28103460hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg388540
hg198540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031271, nssv4031274, nssv4031276, nssv4031275, nssv4031273, nssv4031270, nssv4031277, nssv4031279, nssv4031278, nssv4031272
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)nsv1159992
Frequency
Sample Size369
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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