A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244646



Internal ID22375917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16052423..16078097hg38UCSC Ensembl
Outerchr19:16163233..16188907hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381792
hg191792
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264028, nssv14264026, nssv14264025, nssv14264027, nssv14264023, nssv14264024
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesTPM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244646
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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