A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160467



Internal ID19304467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27647591..27749600hg38UCSC Ensembl
Outerchr17:27647232..27753793hg38UCSC Ensembl
Innerchr17:25974617..26076626hg19UCSC Ensembl
Outerchr17:25974258..26080819hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38106562
hg19106562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039202
Samples
Known GenesLGALS9
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)nsv1160467
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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