A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233333



Internal ID22372735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4488517..4502403hg38UCSC Ensembl
Outerchr19:4488514..4502415hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263799
SamplesHG00732
Known GenesHDGFRP2, PLIN4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233333
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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