A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038561



Internal ID19300700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14957900..14986598hg38UCSC Ensembl
Outerchr16:14956141..14991827hg38UCSC Ensembl
Innerchr16:15051757..15080455hg19UCSC Ensembl
Outerchr16:15049998..15085684hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3835687
hg1935687
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160356
Supporting Variants
Samples
Known GenesPDXDC1
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)nssv4038561
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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