A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039448



Internal ID18954901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:204866..235928hg38UCSC Ensembl
Outerchr18:200576..249255hg38UCSC Ensembl
Innerchr18:204866..235928hg19UCSC Ensembl
Outerchr18:200576..249255hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3848680
hg1948680
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160503
Supporting Variants
Samples
Known GenesTHOC1, USP14
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)nssv4039448
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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