A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160443



Internal ID18957184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2351844..2403401hg38UCSC Ensembl
Outerchr17:2346610..2406836hg38UCSC Ensembl
Innerchr17:2255138..2306695hg19UCSC Ensembl
Outerchr17:2249904..2310130hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3860227
hg1960227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039009
Samples
Known GenesMNT, SGSM2
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)nsv1160443
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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