A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237393



Internal ID22373864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34920552..34931268hg38UCSC Ensembl
Outerchr19:35411456..35422172hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264046, nssv14264045
SamplesNA19239, HG00731
Known GenesZNF30
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237393
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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