A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233802



Internal ID22372848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50066325..50144110hg38UCSC Ensembl
Outerchr19:50569582..50647367hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3854773
hg1954773
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4309n152
Supporting Variantsnssv14263686, nssv14263684, nssv14263685, nssv14263687, nssv14263688
SamplesHG00512, HG00731, NA19240, HG00513, HG00514
Known GenesFLJ26850, 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
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233802
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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