A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028754



Internal ID18945931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:14910522..14926204hg38UCSC Ensembl
Outerchr4:14909629..14926525hg38UCSC Ensembl
Innerchr4:14912146..14927828hg19UCSC Ensembl
Outerchr4:14911253..14928149hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3816897
hg1916897
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161060
Supporting Variants
Samples
Known GenesCPEB2-AS1
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)nssv4028754
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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