A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4034808



Internal ID19298671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:66801982..66861827hg38UCSC Ensembl
Outerchr6:66799090..66862060hg38UCSC Ensembl
Innerchr6:67511875..67571720hg19UCSC Ensembl
Outerchr6:67508983..67571953hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3862971
hg1962971
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161406
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)nssv4034808
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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