A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249900



Internal ID22377400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17746242..17774064hg38UCSC Ensembl
Outerchr12:17899176..17926998hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3846769
hg1946769
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256488, nssv14256487
SamplesNA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249900
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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