A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263961



Internal ID22145888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:58528498..58549035hg38UCSC Ensembl
Outerchr19:59039865..59060402hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243050
Supporting Variants
SamplesHG00514
Known GenesTRIM28
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263961
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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