A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160666



Internal ID18957379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54772391..54822429hg38UCSC Ensembl
Outerchr19:54756764..54823536hg38UCSC Ensembl
Innerchr19:55283843..55333884hg19UCSC Ensembl
Outerchr19:55268216..55334991hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3866773
hg1966776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv149n111
Supporting Variantsnssv4040173
Samples
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
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)nsv1160666
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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