A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5n111



Internal ID20163734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1575421..1823403hg38UCSC Ensembl
chr1:1510801..1754842hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38247983
hg19244042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160837, nsv1160836, nsv1160853
Samples
Known GenesC1orf233, CDK11A, CDK11B, GNB1, MIB2, MMP23A, MMP23B, NADK, SLC35E2, SLC35E2B
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)dgv5n111
Frequency
Sample Size369
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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