A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160159



Internal ID19304499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732024..19955213hg38UCSC Ensembl
Outerchr14:19689684..19956767hg38UCSC Ensembl
Innerchr14:20200183..20423372hg19UCSC Ensembl
Outerchr14:20157843..20424926hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38267084
hg19267084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87n111
Supporting Variantsnssv4031780, nssv4031785, nssv4031795, nssv4031769, nssv4031767, nssv4031773, nssv4031783, nssv4031771, nssv4031786, nssv4031768, nssv4031791, nssv4031798, nssv4031792, nssv4031788, nssv4031789, nssv4031787, nssv4031781, nssv4031782, nssv4031797, nssv4031774, nssv4031794, nssv4031775, nssv4031776, nssv4031796, nssv4031784, nssv4031778, nssv4031770, nssv4031790, nssv4031777, nssv4031779, nssv4031793, nssv4031772
Samples
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)nsv1160159
Frequency
Sample Size369
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer