A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251963



Internal ID21309063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2133813..2205170hg38UCSC Ensembl
Outerchr8:2133812..2205171hg38UCSC Ensembl
Innerchr8:2081800..2152813hg19UCSC Ensembl
Outerchr8:2081799..2152814hg19UCSC Ensembl
Innerchr8:2069207..2140220hg18UCSC Ensembl
Outerchr8:2069206..2140221hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3871360
hg1971016
hg1871016
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169893
Supporting Variants
SamplesNGO_47
Known GenesMYOM2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251963
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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