A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161300



Internal ID19303770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135966326..135999162hg38UCSC Ensembl
Outerchr5:135966128..135999384hg38UCSC Ensembl
Innerchr5:135302015..135334851hg19UCSC Ensembl
Outerchr5:135301817..135335073hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3833257
hg1933257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033731, nssv4033732, nssv4033730
Samples
Known Genes
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)nsv1161300
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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