A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038956



Internal ID18954409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:66570701..66577446hg38UCSC Ensembl
Outerchr16:66568164..66581930hg38UCSC Ensembl
Innerchr16:66604604..66611349hg19UCSC Ensembl
Outerchr16:66602067..66615833hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3813767
hg1913767
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160428
Supporting Variants
Samples
Known GenesCKLF-CMTM1, CMTM1, CMTM2
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)nssv4038956
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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