A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232633



Internal ID22372555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78592103..78601283hg38UCSC Ensembl
Outerchr15:78884445..78893625hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38818
hg19818
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259650, nssv14259652, nssv14259649, nssv14259656, nssv14259654, nssv14259653, nssv14259651, nssv14259655
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesCHRNA3, CHRNA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232633
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer