A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038976



Internal ID18954429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75524185..75541456hg38UCSC Ensembl
Outerchr16:75520136..75542050hg38UCSC Ensembl
Innerchr16:75558083..75575354hg19UCSC Ensembl
Outerchr16:75554034..75575948hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3821915
hg1921915
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160433
Supporting Variants
Samples
Known GenesCHST5, TMEM231
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)nssv4038976
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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