A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233911



Internal ID22372875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12082642..12098130hg38UCSC Ensembl
Outerchr19:12193457..12208945hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264021, nssv14264022
SamplesNA19239, NA19240
Known GenesZNF788
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233911
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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