A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032521



Internal ID19296384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48630419..48647525hg38UCSC Ensembl
Outerchr18:48628118..48650746hg38UCSC Ensembl
Innerchr18:46156790..46173896hg19UCSC Ensembl
Outerchr18:46154489..46177117hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3822629
hg1922629
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160522
Supporting Variants
Samples
Known GenesCTIF
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)nssv4032521
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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