A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268703



Internal ID22258786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46182296..46187194hg38UCSC Ensembl
Outerchr21:47602210..47607108hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381523
hg191523
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240839
Supporting Variants
SamplesNA19238
Known GenesSPATC1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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