A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245044



Internal ID22376032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41421127..41422773hg38UCSC Ensembl
Outerchr21:42793054..42794700hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267089, nssv14267090
SamplesNA19238, HG00513
Known GenesMX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245044
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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