A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160011



Internal ID18956960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32134325..32136617hg38UCSC Ensembl
Outerchr12:32128811..32138919hg38UCSC Ensembl
Innerchr12:32287259..32289551hg19UCSC Ensembl
Outerchr12:32281745..32291853hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3810109
hg1910109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031321
Samples
Known GenesBICD1
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)nsv1160011
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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