A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251178



Internal ID21311910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2043999..2308582hg38UCSC Ensembl
Outerchr8:2038435..2308583hg38UCSC Ensembl
Innerchr8:1992115..2254637hg19UCSC Ensembl
Outerchr8:1986590..2254638hg19UCSC Ensembl
Innerchr8:1979522..2242044hg18UCSC Ensembl
Outerchr8:1973997..2242045hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38270149
hg19268049
hg18268049
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesSNI_14
Known GenesMIR7160, MYOM2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251178
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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