A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213980



Internal ID22360761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:82873511..82900625hg38UCSC Ensembl
Outerchr15:83542263..83569377hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3827115
hg1927115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258826, nssv14258822, nssv14258825, nssv14258821, nssv14258827, nssv14258824, nssv14258823, nssv14258820
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesHOMER2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213980
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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