A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032218



Internal ID18949395
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 TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160274
Supporting Variants
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)nssv4032218
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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