A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161087



Internal ID19303059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56657491..56677153hg38UCSC Ensembl
Outerchr4:56655159..56677675hg38UCSC Ensembl
Innerchr4:57523657..57543319hg19UCSC Ensembl
Outerchr4:57521325..57543841hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3822517
hg1922517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028898
Samples
Known GenesHOPX
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)nsv1161087
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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