A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161229



Internal ID18955764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106974..32158349hg38UCSC Ensembl
Outerchr5:32102625..32170181hg38UCSC Ensembl
Innerchr5:32107080..32158455hg19UCSC Ensembl
Outerchr5:32102731..32170287hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3867557
hg1967557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv208n111
Supporting Variantsnssv4033131, nssv4033138, nssv4033134, nssv4033133, nssv4033137, nssv4033136, nssv4033135, nssv4033132, nssv4033130
Samples
Known GenesGOLPH3, PDZD2
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)nsv1161229
Frequency
Sample Size369
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer