A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039721



Internal ID18955174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12902400..12942516hg38UCSC Ensembl
Outerchr19:12898242..12948155hg38UCSC Ensembl
Innerchr19:13013214..13053330hg19UCSC Ensembl
Outerchr19:13009056..13058969hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3849914
hg1949914
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160589
Supporting Variants
Samples
Known GenesCALR, FARSA, GCDH, MIR6515, RAD23A, SYCE2
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)nssv4039721
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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