A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038719



Internal ID18954172
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160384
Supporting Variants
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)nssv4038719
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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