A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160267



Internal ID18956118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30333732..30450942hg38UCSC Ensembl
Outerchr15:30322761..30455191hg38UCSC Ensembl
Innerchr15:30625935..30743145hg19UCSC Ensembl
Outerchr15:30614964..30747394hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38132431
hg19132431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n111
Supporting Variantsnssv4032208
Samples
Known GenesCHRFAM7A, LOC101059918
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)nsv1160267
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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