A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161014



Internal ID18955840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189642489..189646849hg38UCSC Ensembl
Outerchr3:189642114..189653199hg38UCSC Ensembl
Innerchr3:189360278..189364638hg19UCSC Ensembl
Outerchr3:189359903..189370988hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3811086
hg1911086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv184n111
Supporting Variantsnssv4028371
Samples
Known GenesTP63
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)nsv1161014
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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