A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169514



Internal ID21313747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52328991..52663919hg38UCSC Ensembl
Outerchr8:52324066..52666096hg38UCSC Ensembl
Innerchr8:53241551..53576479hg19UCSC Ensembl
Outerchr8:53236626..53578656hg19UCSC Ensembl
Innerchr8:53404104..53739032hg18UCSC Ensembl
Outerchr8:53399179..53741209hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38342031
hg19342031
hg18342031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246080
SamplesMLY_9
Known GenesFAM150A, RB1CC1, ST18
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169514
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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