A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038083



Internal ID18953536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6423025..6429381hg38UCSC Ensembl
Outerchr10:6417656..6429854hg38UCSC Ensembl
Innerchr10:6464987..6471343hg19UCSC Ensembl
Outerchr10:6459618..6471816hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3812199
hg1912199
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161925
Supporting Variants
Samples
Known GenesPRKCQ
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)nssv4038083
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