A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4034217



Internal ID19298080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:13863154..13867231hg38UCSC Ensembl
Outerchr6:13856229..13868216hg38UCSC Ensembl
Innerchr6:13863385..13867462hg19UCSC Ensembl
Outerchr6:13856460..13868447hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3811988
hg1911988
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161336
Supporting Variants
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)nssv4034217
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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