A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210320



Internal ID22358257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:78547176..78605852hg38UCSC Ensembl
Outerchr4:79468330..79527006hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3858677
hg1958677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272804
SamplesHG00731
Known GenesANXA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210320
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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