A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242512



Internal ID22375302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18174145..18175475hg38UCSC Ensembl
Outerchr19:18284955..18286285hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264785
SamplesHG00732
Known GenesIFI30
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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