A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160384



Internal ID18956709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30032585..30167098hg38UCSC Ensembl
Outerchr16:30023148..30178660hg38UCSC Ensembl
Innerchr16:30043906..30178419hg19UCSC Ensembl
Outerchr16:30034469..30189981hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38155513
hg19155513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038719
Samples
Known GenesALDOA, C16orf92, FAM57B, GDPD3, MAPK3, PPP4C, TBX6, YPEL3
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)nsv1160384
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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