A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160931



Internal ID18957943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:38713688..38722372hg38UCSC Ensembl
Outerchr3:38711477..38729973hg38UCSC Ensembl
Innerchr3:38755179..38763863hg19UCSC Ensembl
Outerchr3:38752968..38771464hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3818497
hg1918497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027695
Samples
Known GenesSCN10A
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)nsv1160931
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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