A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039832



Internal ID19301971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40845091..40863094hg38UCSC Ensembl
Outerchr19:40842964..40863500hg38UCSC Ensembl
Innerchr19:41350996..41368999hg19UCSC Ensembl
Outerchr19:41348869..41369405hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3820537
hg1920537
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160623
Supporting Variants
Samples
Known GenesCYP2A6
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)nssv4039832
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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