A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028771



Internal ID19292634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:23446004..23449584hg38UCSC Ensembl
Outerchr4:23445283..23452682hg38UCSC Ensembl
Innerchr4:23447627..23451207hg19UCSC Ensembl
Outerchr4:23446906..23454305hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg387400
hg197400
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161066
Supporting Variants
Samples
Known GenesMIR548AJ2
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)nssv4028771
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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