A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160974



Internal ID18956578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124581101..125298319hg38UCSC Ensembl
Outerchr3:124577493..125300995hg38UCSC Ensembl
Innerchr3:124299948..125017163hg19UCSC Ensembl
Outerchr3:124296340..125019839hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38723503
hg19723500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028004
Samples
Known GenesHEG1, ITGB5, KALRN, MIR5092, MUC13, SLC12A8, UMPS, ZNF148
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)nsv1160974
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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