A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205596



Internal ID22354266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:670350..749718hg38UCSC Ensembl
Outerchr4:664139..743506hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3879369
hg1979368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6363n152
Supporting Variantsnssv14272764
SamplesHG00514
Known GenesATP5I, MFSD7, MYL5, PCGF3, PDE6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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