A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160059



Internal ID18955795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99599411..99614543hg38UCSC Ensembl
Outerchr12:99592355..99618913hg38UCSC Ensembl
Innerchr12:99993189..100008321hg19UCSC Ensembl
Outerchr12:99986133..100012691hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3826559
hg1926559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031534, nssv4031536, nssv4031535
Samples
Known GenesANKS1B
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)nsv1160059
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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