A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226753



Internal ID22369453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:189809985..189888452hg38UCSC Ensembl
Outerchr4:190731139..190809607hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3813330
hg1913330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7068n152
Supporting Variantsnssv14273186, nssv14273187, nssv14273185
SamplesNA19238, NA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226753
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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