A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212241



Internal ID22359554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:205513..318871hg38UCSC Ensembl
Outerchr5:205628..318986hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381859
hg191859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274683, nssv14274684
SamplesNA19239, NA19240
Known GenesAHRR, CCDC127, LOC102467073, PDCD6, SDHA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212241
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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