A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238057



Internal ID22374047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34529484..34538684hg38UCSC Ensembl
Outerchr19:35020389..35029589hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg382983
hg192983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264191, nssv14264192
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238057
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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