A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161270



Internal ID18957584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:98854826..98903742hg38UCSC Ensembl
Outerchr5:98847646..98908121hg38UCSC Ensembl
Innerchr5:98190530..98239446hg19UCSC Ensembl
Outerchr5:98183350..98243825hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3860476
hg1960476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033603
Samples
Known GenesCHD1
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)nsv1161270
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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