A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268277



Internal ID22277957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48675064..48701009hg38UCSC Ensembl
Outerchr22:49070876..49096821hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246930
Supporting Variants
SamplesNA19239
Known GenesFAM19A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268277
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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