A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246152



Internal ID21311001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19468242..19525113hg38UCSC Ensembl
Outerchr8:19466572..19529260hg38UCSC Ensembl
Innerchr8:19325753..19382624hg19UCSC Ensembl
Outerchr8:19324083..19386771hg19UCSC Ensembl
Innerchr8:19370033..19426904hg18UCSC Ensembl
Outerchr8:19368363..19431051hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3862689
hg1962689
hg1862689
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169402
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)nssv14246152
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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