A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160629



Internal ID18956845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790238..42971344hg38UCSC Ensembl
Outerchr19:42786621..42973282hg38UCSC Ensembl
Innerchr19:43294390..43475496hg19UCSC Ensembl
Outerchr19:43290773..43477434hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38186662
hg19186662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv144n111
Supporting Variantsnssv4039838
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7
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)nsv1160629
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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