A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209626



Internal ID22357671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7991687..7995886hg38UCSC Ensembl
Outerchr4:7993414..7997613hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275008, nssv14274522, nssv14275009
SamplesHG00512, HG00731, HG00513
Known GenesABLIM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209626
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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