A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160269



Internal ID18957765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30338762..30440076hg38UCSC Ensembl
Outerchr15:30334225..30442554hg38UCSC Ensembl
Innerchr15:30630965..30732279hg19UCSC Ensembl
Outerchr15:30626428..30734757hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38108330
hg19108330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n111
Supporting Variantsnssv4032211, nssv4032210
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)nsv1160269
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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