A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239805



Internal ID22374535
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n152
Supporting Variantsnssv14263957, nssv14263954, nssv14263958, nssv14263955, nssv14263960, nssv14263956, nssv14263959
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239805
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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