A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218043



Internal ID22363524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241804320..241850479hg38UCSC Ensembl
Outerchr2:242743735..242792631hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381760
hg191760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266754
SamplesNA19239
Known GenesNEU4, PDCD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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