A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031870



Internal ID19295733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48273194..48329982hg38UCSC Ensembl
Outerchr14:48264531..48332527hg38UCSC Ensembl
Innerchr14:48742397..48799185hg19UCSC Ensembl
Outerchr14:48733734..48801730hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3867997
hg1967997
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160192
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)nssv4031870
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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