A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207580



Internal ID22355945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23608181..23623974hg38UCSC Ensembl
Outerchr4:23609804..23625597hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3815794
hg1915794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275016, nssv14275015
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207580
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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