A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249777



Internal ID22377370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25514910..25544384hg38UCSC Ensembl
Outerchr15:25760057..25789531hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381417
hg191417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258596, nssv14258598, nssv14258599, nssv14258594, nssv14258597, nssv14258595
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249777
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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