A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031869



Internal ID18949046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46785391..46849487hg38UCSC Ensembl
Outerchr14:46782377..46854924hg38UCSC Ensembl
Innerchr14:47254594..47318690hg19UCSC Ensembl
Outerchr14:47251580..47324127hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3872548
hg1972548
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160191
Supporting Variants
Samples
Known GenesMDGA2
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)nssv4031869
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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