A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203384



Internal ID22352405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42251315..42262317hg38UCSC Ensembl
Outerchr4:42253332..42264334hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3811003
hg1911003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6564n152
Supporting Variantsnssv14274496
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203384
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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