A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038473



Internal ID18953926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1708773..1786254hg38UCSC Ensembl
Outerchr16:1704619..1797867hg38UCSC Ensembl
Innerchr16:1758774..1836255hg19UCSC Ensembl
Outerchr16:1754620..1847868hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3893249
hg1993249
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160328
Supporting Variants
Samples
Known GenesEME2, IGFALS, MAPK8IP3, MIR3177, MRPS34, NME3, NUBP2, SPSB3
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)nssv4038473
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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