A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220486



Internal ID22365164
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264095, nssv14264093, nssv14264091, nssv14264094, nssv14264092, nssv14264096
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00514
Known GenesLOC284395
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220486
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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