A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227206



Internal ID22369770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:81282742..81285682hg38UCSC Ensembl
Outerchr4:82203896..82206836hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg385951
hg195951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273912, nssv14273913
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227206
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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