A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231563



Internal ID22372262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:90645122..90666451hg38UCSC Ensembl
Outerchr15:91188354..91209682hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg385420
hg195420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259068, nssv14259081, nssv14259080, nssv14259082
SamplesHG00731, HG00733, HG00513, HG00514
Known GenesCRTC3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231563
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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