A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159987



Internal ID18956477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14524709..14533139hg38UCSC Ensembl
Outerchr12:14517635..14540080hg38UCSC Ensembl
Innerchr12:14677643..14686073hg19UCSC Ensembl
Outerchr12:14670569..14693014hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3822446
hg1922446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031265, nssv4031264
Samples
Known GenesPLBD1
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)nsv1159987
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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