A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160099



Internal ID19303513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31958485..31964286hg38UCSC Ensembl
Outerchr13:31957984..31965910hg38UCSC Ensembl
Innerchr13:32532622..32538423hg19UCSC Ensembl
Outerchr13:32532121..32540047hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg387927
hg197927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n111
Supporting Variantsnssv4031626, nssv4031625, nssv4031632, nssv4031616, nssv4031615, nssv4031618, nssv4031624, nssv4031633, nssv4031631, nssv4031614, nssv4031623, nssv4031621, nssv4031628, nssv4031619, nssv4031627, nssv4031613, nssv4031629, nssv4031622, nssv4031630, nssv4031617, nssv4031634, nssv4031620
Samples
Known GenesEEF1DP3
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)nsv1160099
Frequency
Sample Size369
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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