A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248954



Internal ID21308656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:78266379..78273093hg38UCSC Ensembl
Outerchr8:78262264..78276379hg38UCSC Ensembl
Innerchr8:79178614..79185328hg19UCSC Ensembl
Outerchr8:79174499..79188614hg19UCSC Ensembl
Innerchr8:79341169..79347883hg18UCSC Ensembl
Outerchr8:79337054..79351169hg18UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3814116
hg1914116
hg1814116
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169378
Supporting Variants
SamplesNGO_43
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248954
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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