A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038957



Internal ID18954410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:67170195..67211499hg38UCSC Ensembl
Outerchr16:67161549..67220197hg38UCSC Ensembl
Innerchr16:67204098..67245402hg19UCSC Ensembl
Outerchr16:67195452..67254100hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3858649
hg1958649
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160429
Supporting Variants
Samples
Known GenesE2F4, ELMO3, EXOC3L1, FBXL8, HSF4, KIAA0895L, LRRC29, MIR328, NOL3
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)nssv4038957
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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