A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239501



Internal ID22374430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50045626..50152843hg38UCSC Ensembl
Outerchr19:50548883..50656100hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38137144
hg19137144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4309n152
Supporting Variantsnssv14263615, nssv14263613, nssv14263614
SamplesNA19239, HG00732, HG00733
Known GenesFLJ26850, IZUMO2, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, ZNF473
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239501
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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