A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243360



Internal ID21303140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2132407..2133812hg38UCSC Ensembl
Outerchr8:2132302..2133964hg38UCSC Ensembl
Innerchr8:2080394..2081799hg19UCSC Ensembl
Outerchr8:2080289..2081951hg19UCSC Ensembl
Innerchr8:2067801..2069206hg18UCSC Ensembl
Outerchr8:2067696..2069358hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381663
hg191663
hg181663
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesMLY_4
Known GenesMYOM2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243360
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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