A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161479



Internal ID19303074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2618582..2669619hg38UCSC Ensembl
Outerchr7:2614158..2673300hg38UCSC Ensembl
Innerchr7:2658216..2709253hg19UCSC Ensembl
Outerchr7:2653792..2712934hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3859143
hg1959143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035266
Samples
Known GenesIQCE, TTYH3
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)nsv1161479
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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