A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228729



Internal ID22370817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109518540..109527518hg38UCSC Ensembl
Outerchr1:110061162..110070140hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3826877
hg1926877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275953
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228729
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