A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038488



Internal ID18953941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7441237..7458782hg38UCSC Ensembl
Outerchr16:7437203..7462847hg38UCSC Ensembl
Innerchr16:7491238..7508784hg19UCSC Ensembl
Outerchr16:7487204..7512849hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3825645
hg1925646
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160339
Supporting Variants
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)nssv4038488
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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