A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225489



Internal ID22368598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46233777..46243728hg38UCSC Ensembl
Outerchr21:47653691..47663642hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg389952
hg199952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267926, nssv14267864
SamplesHG00512, NA19238
Known GenesMCM3AP, MCM3AP-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225489
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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