A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245820



Internal ID22376253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25541809..25562859hg38UCSC Ensembl
Outerchr20:25522445..25543495hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg389250
hg199250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266408, nssv14266407
SamplesNA19238, NA19240
Known GenesNINL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245820
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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