A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248679



Internal ID22377050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18710122..18733679hg38UCSC Ensembl
Outerchr19:18820932..18844489hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381395
hg191395
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263272
SamplesHG00514
Known GenesCRTC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248679
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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