A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161135



Internal ID18955766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12813243..12868035hg38UCSC Ensembl
Outerchr1:12807830..12923686hg38UCSC Ensembl
Innerchr1:12873385..12927856hg19UCSC Ensembl
Outerchr1:12867966..12983506hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38115857
hg19115541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7n111
Supporting Variantsnssv4029287
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
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)nsv1161135
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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