A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039451



Internal ID19301590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9382611..9414054hg38UCSC Ensembl
Outerchr18:9377706..9414903hg38UCSC Ensembl
Innerchr18:9382609..9414052hg19UCSC Ensembl
Outerchr18:9377704..9414901hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3837198
hg1937198
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160506
Supporting Variants
Samples
Known GenesTWSG1
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)nssv4039451
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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