A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206565



Internal ID22355084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:119842332..119868788hg38UCSC Ensembl
Outerchr4:120763487..120789943hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3826457
hg1926457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275101
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206565
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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