A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248187



Internal ID21305876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2037203..2084312hg38UCSC Ensembl
Outerchr8:2035440..2088664hg38UCSC Ensembl
Innerchr8:1985345..2032444hg19UCSC Ensembl
Outerchr8:1983582..2036441hg19UCSC Ensembl
Innerchr8:1972752..2019851hg18UCSC Ensembl
Outerchr8:1970989..2023848hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3853225
hg1952860
hg1852860
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesNGO_24
Known GenesMIR7160, MYOM2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248187
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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