A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161102



Internal ID18955819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12785720..12823233hg38UCSC Ensembl
Outerchr1:12781785..12832455hg38UCSC Ensembl
Innerchr1:12845863..12883096hg19UCSC Ensembl
Outerchr1:12841928..12892309hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3850671
hg1950382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028767, nssv4028878, nssv4028983, nssv4028656, nssv4028323, nssv4028434, nssv4028545
Samples
Known GenesPRAMEF1, PRAMEF11
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)nsv1161102
Frequency
Sample Size369
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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