A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160056



Internal ID19304273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93042343..93101727hg38UCSC Ensembl
Outerchr12:93038310..93102668hg38UCSC Ensembl
Innerchr12:93436119..93495503hg19UCSC Ensembl
Outerchr12:93432086..93496444hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3864359
hg1964359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031531
Samples
Known GenesLOC643339
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)nsv1160056
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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