A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160590



Internal ID18957013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14402969..14456744hg38UCSC Ensembl
Outerchr19:14398750..14462842hg38UCSC Ensembl
Innerchr19:14513781..14567556hg19UCSC Ensembl
Outerchr19:14509562..14573654hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3864093
hg1964093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039722
Samples
Known GenesCD97, DDX39A, PKN1
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)nsv1160590
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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