A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200880



Internal ID22350269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:133208858..133228240hg38UCSC Ensembl
Outerchr4:134130013..134149395hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3819383
hg1919383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274423, nssv14274425, nssv14274426, nssv14274424
SamplesHG00512, NA19239, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200880
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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