A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160616



Internal ID18956382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38842837..38898068hg38UCSC Ensembl
Outerchr19:38839331..38903590hg38UCSC Ensembl
Innerchr19:39333477..39388708hg19UCSC Ensembl
Outerchr19:39329971..39394230hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3864260
hg1964260
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039823
Samples
Known GenesHNRNPL, NFKBIB, RINL, SIRT2
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)nsv1160616
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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