A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225506



Internal ID22368613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1756206..1769704hg38UCSC Ensembl
Outerchr4:1757933..1771431hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273207, nssv14273208, nssv14273209
SamplesNA19239, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225506
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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