A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214475



Internal ID22361124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58574452..58612678hg38UCSC Ensembl
Outerchr5:57870279..57908505hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275206, nssv14275205, nssv14275203, nssv14275208, nssv14275207, nssv14275204, nssv14275209
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesRAB3C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214475
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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