A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243929



Internal ID22375713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3720478..3755342hg38UCSC Ensembl
Outerchr19:3720476..3755340hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381077
hg191077
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263020, nssv14263021, nssv14263023, nssv14263025, nssv14263018, nssv14263022, nssv14263024, nssv14263019, nssv14263017
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAPBA3, TJP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243929
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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