A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038487



Internal ID18953940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7239688..7245166hg38UCSC Ensembl
Outerchr16:7238607..7245632hg38UCSC Ensembl
Innerchr16:7289689..7295167hg19UCSC Ensembl
Outerchr16:7288608..7295633hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387026
hg197026
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160338
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)nssv4038487
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer