A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160337



Internal ID18956448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7140896..7184337hg38UCSC Ensembl
Outerchr16:7138405..7187954hg38UCSC Ensembl
Innerchr16:7190897..7234338hg19UCSC Ensembl
Outerchr16:7188406..7237955hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3849550
hg1949550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038483, nssv4038482, nssv4038484, nssv4038486, nssv4038485
Samples
Known GenesRBFOX1
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)nsv1160337
Frequency
Sample Size369
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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