A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263707



Internal ID22120314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5486140..5501542hg38UCSC Ensembl
Outerchr19:5486151..5501553hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242402
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263707
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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