A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028920



Internal ID19292783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57831746..57866752hg38UCSC Ensembl
Outerchr4:57830345..57872173hg38UCSC Ensembl
Innerchr4:58697912..58732918hg19UCSC Ensembl
Outerchr4:58696511..58738339hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3841829
hg1941829
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161091
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)nssv4028920
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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