A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249434



Internal ID22377271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23278060..23285870hg38UCSC Ensembl
Outerchr14:23747269..23755079hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258095, nssv14258094
SamplesNA19238, HG00513
Known GenesHOMEZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249434
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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