A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272380



Internal ID22138083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42748052..42785112hg38UCSC Ensembl
Outerchr4:42750069..42787129hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3837061
hg1937061
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206574
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272380
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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