A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160554



Internal ID18956152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:665896..941603hg38UCSC Ensembl
Outerchr19:657666..967584hg38UCSC Ensembl
Innerchr19:665896..941603hg19UCSC Ensembl
Outerchr19:657666..967584hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38309919
hg19309919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134n111
Supporting Variantsnssv4032645
Samples
Known GenesARID3A, AZU1, CFD, ELANE, FSTL3, KISS1R, LPPR3, MED16, MIR3187, MIR4745, MISP, PALM, PRSS57, PRTN3, PTBP1, R3HDM4, RNF126
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)nsv1160554
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