A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv127n111



Internal ID22798327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41041508..41069285hg38UCSC Ensembl
chr17:39197760..39225537hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3827778
hg1927778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160471, nsv1160472
Samples
Known GenesKRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4
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)dgv127n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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