A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281009



Internal ID22139445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:64924298..64940537hg38UCSC Ensembl
Outerchr8:65836533..65852772hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3843170
hg1943170
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240149
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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