A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229834



Internal ID22371550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1531133..1578798hg38UCSC Ensembl
Outerchr5:1531248..1578913hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275106, nssv14275104, nssv14275107, nssv14275108, nssv14275105
SamplesNA19238, NA19240, HG00733, HG00513, HG00514
Known GenesSDHAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229834
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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