A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14241794



Internal ID21310861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19532229..19654461hg38UCSC Ensembl
Outerchr8:19529260..19656015hg38UCSC Ensembl
Innerchr8:19389740..19511972hg19UCSC Ensembl
Outerchr8:19386771..19513526hg19UCSC Ensembl
Innerchr8:19434020..19556252hg18UCSC Ensembl
Outerchr8:19431051..19557806hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38126756
hg19126756
hg18126756
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169441
Supporting Variants
SamplesPML_2
Known GenesCSGALNACT1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14241794
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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