A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199535



Internal ID22349104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145496517..145522087hg38UCSC Ensembl
Outerchr4:146417669..146443239hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3825571
hg1925571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272817, nssv14272819, nssv14272818
SamplesHG00731, HG00732, HG00733
Known GenesSMAD1, SMAD1-AS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199535
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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