A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243881



Internal ID21301772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12691718..12695279hg38UCSC Ensembl
Outerchr8:12691236..12695325hg38UCSC Ensembl
Innerchr8:12549227..12552788hg19UCSC Ensembl
Outerchr8:12548745..12552834hg19UCSC Ensembl
Innerchr8:12593598..12597159hg18UCSC Ensembl
Outerchr8:12593116..12597205hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384090
hg194090
hg184090
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170296
Supporting Variants
SamplesMLY_1
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243881
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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