A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161311



Internal ID18956247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177313243..177541263hg38UCSC Ensembl
Outerchr5:177305104..177546474hg38UCSC Ensembl
Innerchr5:176740244..176968264hg19UCSC Ensembl
Outerchr5:176732105..176973475hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38241371
hg19241371
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033841
Samples
Known GenesDBN1, DDX41, DOK3, F12, FAM193B, GRK6, LMAN2, MXD3, PDLIM7, PFN3, PRELID1, PRR7, PRR7-AS1, RGS14, SLC34A1
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)nsv1161311
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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