A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031800



Internal ID19295663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19742838..19952080hg38UCSC Ensembl
Outerchr14:19735739..19954095hg38UCSC Ensembl
Innerchr14:20210997..20420239hg19UCSC Ensembl
Outerchr14:20203898..20422254hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38218357
hg19218357
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160161
Supporting Variants
Samples
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)nssv4031800
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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