A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031817



Internal ID19295680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36202820..36205827hg38UCSC Ensembl
Outerchr14:36200198..36210414hg38UCSC Ensembl
Innerchr14:36672026..36675033hg19UCSC Ensembl
Outerchr14:36669404..36679620hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3810217
hg1910217
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160175
Supporting Variants
Samples
Known Genes
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)nssv4031817
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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