A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161462



Internal ID19304601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:153800845..153807105hg38UCSC Ensembl
Outerchr6:153798929..153818270hg38UCSC Ensembl
Innerchr6:154121980..154128240hg19UCSC Ensembl
Outerchr6:154120064..154139405hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3819342
hg1919342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035119
Samples
Known Genes
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)nsv1161462
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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