A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161812



Internal ID18956948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143610108..143625638hg38UCSC Ensembl
Outerchr8:143604922..143636819hg38UCSC Ensembl
Innerchr8:144692278..144707808hg19UCSC Ensembl
Outerchr8:144687092..144718989hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3831898
hg1931898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv271n111
Supporting Variantsnssv4037116
Samples
Known GenesPYCRL, TSTA3, ZNF623
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)nsv1161812
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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