A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263271



Internal ID22145785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14768804..14774086hg38UCSC Ensembl
Outerchr19:14879616..14884898hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244425
Supporting Variants
SamplesHG00514
Known GenesEMR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263271
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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