A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160449



Internal ID19302958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13675205..13716629hg38UCSC Ensembl
Outerchr17:13667988..13719394hg38UCSC Ensembl
Innerchr17:13578522..13619946hg19UCSC Ensembl
Outerchr17:13571305..13622711hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3851407
hg1951407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039015
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)nsv1160449
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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