A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245895



Internal ID22376272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45494950..45531963hg38UCSC Ensembl
Outerchr21:46914864..46951877hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381692
hg191692
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267142, nssv14267141, nssv14267140, nssv14267143
SamplesNA19238, NA19240, HG00733, HG00514
Known GenesCOL18A1, SLC19A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245895
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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