A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030807



Internal ID19294670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:91231986..91316652hg38UCSC Ensembl
Outerchr11:91227879..91320842hg38UCSC Ensembl
Innerchr11:90965154..91049819hg19UCSC Ensembl
Outerchr11:90961047..91054009hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3892964
hg1992963
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159918
Supporting Variants
Samples
Known Genes
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)nssv4030807
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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