A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268280



Internal ID22146526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48734676..48774013hg38UCSC Ensembl
Outerchr22:49130488..49169825hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238999
Supporting Variants
SamplesHG00514
Known GenesFAM19A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268280
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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