A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038968



Internal ID19301107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74362396..74418138hg38UCSC Ensembl
Outerchr16:74350360..74422703hg38UCSC Ensembl
Innerchr16:74396294..74452036hg19UCSC Ensembl
Outerchr16:74384258..74456601hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3872344
hg1972344
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160432
Supporting Variants
Samples
Known GenesCLEC18B, LOC283922
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)nssv4038968
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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