A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161312



Internal ID18956508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177327664..177386403hg38UCSC Ensembl
Outerchr5:177322159..177405557hg38UCSC Ensembl
Innerchr5:176754665..176813404hg19UCSC Ensembl
Outerchr5:176749160..176832558hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3883399
hg1983399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033842
Samples
Known GenesF12, LMAN2, PFN3, RGS14, SLC34A1
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)nsv1161312
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