A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240955



Internal ID22374825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4738781..4742840hg38UCSC Ensembl
Outerchr19:4738793..4742852hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263049, nssv14263048, nssv14263046, nssv14263050, nssv14263044, nssv14263045, nssv14263043, nssv14263047, nssv14263051
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240955
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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