A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030245



Internal ID18947422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1853837..1886035hg38UCSC Ensembl
Outerchr11:1844881..1887776hg38UCSC Ensembl
Innerchr11:1875067..1907265hg19UCSC Ensembl
Outerchr11:1866111..1909006hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3842896
hg1942896
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159792
Supporting Variants
Samples
Known GenesLSP1, MIR4298
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)nssv4030245
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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