A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272816



Internal ID22193158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:133980543..134030148hg38UCSC Ensembl
Outerchr4:134901698..134951303hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3849606
hg1949606
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206792
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272816
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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