A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243709



Internal ID21309035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2210276..2308582hg38UCSC Ensembl
Outerchr8:2210275..2308583hg38UCSC Ensembl
Innerchr8:2157947..2254637hg19UCSC Ensembl
Outerchr8:2157946..2254638hg19UCSC Ensembl
Innerchr8:2145354..2242044hg18UCSC Ensembl
Outerchr8:2145353..2242045hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3898309
hg1996693
hg1896693
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesNGO_47
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243709
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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