A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233914



Internal ID22372876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62331957..62365418hg38UCSC Ensembl
Outerchr20:60907013..60940474hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266933, nssv14266932
SamplesNA19238, HG00514
Known GenesLAMA5, MIR4758
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233914
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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