A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215603



Internal ID22361876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24427210..24457713hg38UCSC Ensembl
Outerchr1:24753700..24784203hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383240
hg193240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274216
SamplesHG00731
Known GenesNIPAL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215603
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