A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038477



Internal ID18953930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4383670..4486164hg38UCSC Ensembl
Outerchr16:4367643..4486554hg38UCSC Ensembl
Innerchr16:4433671..4536165hg19UCSC Ensembl
Outerchr16:4417644..4536555hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38118912
hg19118912
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160332
Supporting Variants
Samples
Known GenesCORO7, CORO7-PAM16, DNAJA3, HMOX2, NMRAL1, VASN
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)nssv4038477
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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