A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160552



Internal ID18957800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80140678..80217355hg38UCSC Ensembl
Outerchr18:80135813..80222390hg38UCSC Ensembl
Innerchr18:77898561..77975238hg19UCSC Ensembl
Outerchr18:77893696..77980273hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3886578
hg1986578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032643, nssv4032642
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1
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)nsv1160552
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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