A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230154



Internal ID22371771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52087889..52107339hg38UCSC Ensembl
Outerchr5:51383723..51403173hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7334n152
Supporting Variantsnssv14276145, nssv14276146
SamplesNA19238, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230154
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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