A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038470



Internal ID18953923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:514999..822941hg38UCSC Ensembl
Outerchr16:506925..836376hg38UCSC Ensembl
Innerchr16:564999..872941hg19UCSC Ensembl
Outerchr16:556925..886376hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38329452
hg19329452
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160325
Supporting Variants
Samples
Known GenesC16orf11, C16orf13, CAPN15, CCDC78, CHTF18, FAM173A, FAM195A, FBXL16, GNG13, HAGHL, JMJD8, LINC00235, METRN, MIR3176, MIR5587, MIR662, MSLN, NARFL, NHLRC4, PIGQ, PRR25, RAB11FIP3, RAB40C, RHBDL1, RHOT2, RPUSD1, STUB1, WDR24, WDR90, WFIKKN1
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)nssv4038470
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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