A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032520



Internal ID19296383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:43741104..43766146hg38UCSC Ensembl
Outerchr18:43738752..43770779hg38UCSC Ensembl
Innerchr18:41321069..41346111hg19UCSC Ensembl
Outerchr18:41318717..41350744hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3832028
hg1932028
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160521
Supporting Variants
Samples
Known Genes
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)nssv4032520
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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