A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264094



Internal ID22243414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29458300..29479248hg38UCSC Ensembl
Outerchr19:29949207..29970155hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3820949
hg1920949
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220486
Supporting Variants
SamplesHG00733
Known GenesLOC284395
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264094
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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