A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224266



Internal ID22367749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37322593..37333489hg38UCSC Ensembl
Outerchr4:37324215..37335111hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273961, nssv14273960
SamplesHG00512, NA19240
Known GenesKIAA1239
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224266
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