A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161189



Internal ID18957062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13339386..13362453hg38UCSC Ensembl
Outerchr1:13339160..13366082hg38UCSC Ensembl
Innerchr1:13444908..13468022hg19UCSC Ensembl
Outerchr1:13444682..13471704hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3826923
hg1927023
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029517, nssv4029547
Samples
Known GenesPRAMEF13
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)nsv1161189
Frequency
Sample Size369
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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