A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv160n111



Internal ID20163889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232328858..232470431hg38UCSC Ensembl
chr2:233193568..233335141hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38141574
hg19141574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160907, nsv1160906
Samples
Known GenesALPI, ALPP, ALPPL2, DIS3L2, ECEL1P2
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)dgv160n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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