A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160649



Internal ID18956837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45359039..45361231hg38UCSC Ensembl
Outerchr19:45353791..45361633hg38UCSC Ensembl
Innerchr19:45862297..45864489hg19UCSC Ensembl
Outerchr19:45857049..45864891hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg387843
hg197843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039939
Samples
Known GenesERCC2
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)nsv1160649
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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