A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030754



Internal ID18947931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59023521..59082384hg38UCSC Ensembl
Outerchr11:59011170..59086292hg38UCSC Ensembl
Innerchr11:58790994..58849857hg19UCSC Ensembl
Outerchr11:58778643..58853765hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3875123
hg1975123
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159885
Supporting Variants
Samples
Known GenesLOC283194
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)nssv4030754
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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