A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9n111



Internal ID20163738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34626073..34650960hg38UCSC Ensembl
chr1:35091674..35116561hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3824888
hg1924888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160821, nsv1160822
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)dgv9n111
Frequency
Sample Size369
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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