A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244488



Internal ID22375874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6903997..6917280hg38UCSC Ensembl
Outerchr19:6904008..6917291hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382990
hg192990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263772
SamplesHG00731
Known GenesEMR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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