A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160296



Internal ID19303307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:47913049..47922506hg38UCSC Ensembl
Outerchr15:47900209..47925808hg38UCSC Ensembl
Innerchr15:48205246..48214703hg19UCSC Ensembl
Outerchr15:48192406..48218005hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3825600
hg1925600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032286, nssv4032285, nssv4032284
Samples
Known Genes
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)nsv1160296
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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