A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035116



Internal ID19298979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:142024285..142063759hg38UCSC Ensembl
Outerchr6:142023685..142069213hg38UCSC Ensembl
Innerchr6:142345422..142384896hg19UCSC Ensembl
Outerchr6:142344822..142390350hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3845529
hg1945529
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161459
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)nssv4035116
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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