A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228166



Internal ID22370437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14904063..14965039hg38UCSC Ensembl
Outerchr4:14905687..14966663hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg385908
hg195908
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273472, nssv14273469, nssv14273473, nssv14273471, nssv14273470
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known GenesCPEB2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228166
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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