A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038461



Internal ID18953914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:89618060..89675716hg38UCSC Ensembl
Outerchr15:89614949..89683716hg38UCSC Ensembl
Innerchr15:90161291..90218947hg19UCSC Ensembl
Outerchr15:90158180..90226947hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3868768
hg1968768
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160317
Supporting Variants
Samples
Known GenesKIF7, PEX11A, PLIN1, TICRR
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)nssv4038461
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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