A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038494



Internal ID18953947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14794738..14896005hg38UCSC Ensembl
Outerchr16:14741210..14954911hg38UCSC Ensembl
Innerchr16:14888595..14989862hg19UCSC Ensembl
Outerchr16:14835067..15048768hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38213702
hg19213702
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160345
Supporting Variants
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3
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)nssv4038494
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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