A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160463



Internal ID19303323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19527969..19545487hg38UCSC Ensembl
Outerchr17:19523662..19550443hg38UCSC Ensembl
Innerchr17:19431282..19448800hg19UCSC Ensembl
Outerchr17:19426975..19453756hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3826782
hg1926782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039198
Samples
Known GenesSLC47A1
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)nsv1160463
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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