A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027840



Internal ID19291703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:80599989..80650764hg38UCSC Ensembl
Outerchr3:80590945..80655729hg38UCSC Ensembl
Innerchr3:80649139..80699915hg19UCSC Ensembl
Outerchr3:80640095..80704880hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3864785
hg1964786
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160953
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)nssv4027840
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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