A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248304



Internal ID21309011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2048444..2132406hg38UCSC Ensembl
Outerchr8:2046987..2132407hg38UCSC Ensembl
Innerchr8:1996559..2080393hg19UCSC Ensembl
Outerchr8:1995102..2080394hg19UCSC Ensembl
Innerchr8:1983966..2067800hg18UCSC Ensembl
Outerchr8:1982509..2067801hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3885421
hg1985293
hg1885293
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesNGO_47
Known GenesMIR7160, MYOM2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248304
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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