A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039945



Internal ID18955398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49494848..49838854hg38UCSC Ensembl
Outerchr19:49489110..49841830hg38UCSC Ensembl
Innerchr19:49998105..50342111hg19UCSC Ensembl
Outerchr19:49992367..50345087hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38352721
hg19352721
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160655
Supporting Variants
Samples
Known GenesADM5, AP2A1, BCL2L12, CPT1C, FCGRT, FUZ, IRF3, MED25, MIR150, MIR5088, MIR6799, MIR6800, NOSIP, PRMT1, PRR12, PRRG2, PTOV1-AS1, RCN3, RPL13A, RPL13AP5, RPS11, RRAS, SCAF1, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, TSKS
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)nssv4039945
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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