A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160985



Internal ID19304433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132273929..132276840hg38UCSC Ensembl
Outerchr3:132273893..132281633hg38UCSC Ensembl
Innerchr3:131992773..131995684hg19UCSC Ensembl
Outerchr3:131992737..132000477hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387741
hg197741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028125, nssv4028131, nssv4028121, nssv4028128, nssv4028130, nssv4028122, nssv4028133, nssv4028113, nssv4028139, nssv4028116, nssv4028138, nssv4028146, nssv4028142, nssv4028143, nssv4028141, nssv4028117, nssv4028109, nssv4028107, nssv4028136, nssv4028147, nssv4028108, nssv4028119, nssv4028140, nssv4028120, nssv4028124, nssv4028126, nssv4028135, nssv4028129, nssv4028114, nssv4028137, nssv4028127, nssv4028118, nssv4028144, nssv4028115, nssv4028111, nssv4028110, nssv4028132
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)nsv1160985
Frequency
Sample Size369
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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