A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160898



Internal ID18957658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201199945..201212890hg38UCSC Ensembl
Outerchr2:201196327..201213771hg38UCSC Ensembl
Innerchr2:202064668..202077613hg19UCSC Ensembl
Outerchr2:202061050..202078494hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3817445
hg1917445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027539, nssv4027538
Samples
Known GenesCASP10
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)nsv1160898
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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