A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160344



Internal ID18957563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741210..14896005hg38UCSC Ensembl
Outerchr16:14687537..14954911hg38UCSC Ensembl
Innerchr16:14835067..14989862hg19UCSC Ensembl
Outerchr16:14781394..15048768hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38267375
hg19267375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038493
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, PLA2G10
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)nsv1160344
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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