A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250265



Internal ID22377485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14582966..14600479hg38UCSC Ensembl
Outerchr12:14735900..14753413hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381205
hg191205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256804
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250265
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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