A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160274



Internal ID18955928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30628421..30796274hg38UCSC Ensembl
Outerchr15:30621384..30807423hg38UCSC Ensembl
Innerchr15:30920624..31088477hg19UCSC Ensembl
Outerchr15:30913587..31099626hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38186040
hg19186040
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv106n111
Supporting Variantsnssv4032218, nssv4032217
Samples
Known GenesARHGAP11B, LOC100288637
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)nsv1160274
Frequency
Sample Size369
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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