A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160068



Internal ID18956223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127781123..128021330hg38UCSC Ensembl
Outerchr12:127772204..128021656hg38UCSC Ensembl
Innerchr12:128265668..128505875hg19UCSC Ensembl
Outerchr12:128256749..128506201hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38249453
hg19249453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031560
Samples
Known GenesFLJ37505, LINC00507
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)nsv1160068
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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