A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030787



Internal ID18947964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:60454677..60461921hg38UCSC Ensembl
Outerchr11:60450317..60463593hg38UCSC Ensembl
Innerchr11:60222150..60229394hg19UCSC Ensembl
Outerchr11:60217790..60231066hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3813277
hg1913277
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159902
Supporting Variants
Samples
Known GenesMS4A1
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)nssv4030787
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