A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220580



Internal ID22365236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:25422328..25469486hg38UCSC Ensembl
Outerchr4:25423950..25471108hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381455
hg191455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274291
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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