A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4033139



Internal ID18950316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32152987hg38UCSC Ensembl
Outerchr5:32102625..32155447hg38UCSC Ensembl
Innerchr5:32107084..32153093hg19UCSC Ensembl
Outerchr5:32102731..32155553hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3852823
hg1952823
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161230
Supporting Variants
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)nssv4033139
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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