A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161448



Internal ID18956371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:122436808..122474579hg38UCSC Ensembl
Outerchr6:122422593..122476539hg38UCSC Ensembl
Innerchr6:122757953..122795724hg19UCSC Ensembl
Outerchr6:122743738..122797684hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3853947
hg1953947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035052
Samples
Known GenesHSF2, PKIB, SERINC1
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)nsv1161448
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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