A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039720



Internal ID18955173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12664048..12803471hg38UCSC Ensembl
Outerchr19:12661276..12810372hg38UCSC Ensembl
Innerchr19:12774862..12914285hg19UCSC Ensembl
Outerchr19:12772090..12921186hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38149097
hg19149097
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160588
Supporting Variants
Samples
Known GenesASNA1, BEST2, C19orf43, DHPS, FBXW9, HOOK2, JUNB, MAN2B1, PRDX2, RNASEH2A, SNORD41, TNPO2, WDR83, WDR83OS
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)nssv4039720
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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