A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160380



Internal ID19304069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22546611..22701658hg38UCSC Ensembl
Outerchr16:22430699..22706267hg38UCSC Ensembl
Innerchr16:22557932..22712979hg19UCSC Ensembl
Outerchr16:22442020..22717588hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38275569
hg19275569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115n111
Supporting Variantsnssv4038711, nssv4038712, nssv4038709, nssv4038708, nssv4038713, nssv4038710
Samples
Known GenesLOC653786, NPIPB5, RRN3P3, SMG1P1
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)nsv1160380
Frequency
Sample Size369
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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