A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263261



Internal ID22183551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49453259..49465756hg38UCSC Ensembl
Outerchr19:49956516..49969013hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382864
hg192864
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245657
Supporting Variants
SamplesHG00514
Known GenesALDH16A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263261
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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