A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263954



Internal ID22120406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56899629..56981319hg38UCSC Ensembl
Outerchr19:57410997..57492687hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382986
hg192986
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239805
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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