A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250001



Internal ID22377416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35103286..35111027hg38UCSC Ensembl
Outerchr19:35594190..35601931hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264808
SamplesHG00733
Known GenesHPN-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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