A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241106



Internal ID22374876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3142350..3153169hg38UCSC Ensembl
Outerchr19:3142348..3153167hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263992, nssv14263991, nssv14263990
SamplesNA19239, HG00732, HG00514
Known GenesGNA15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241106
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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