A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238536



Internal ID22374183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88626914..88719499hg38UCSC Ensembl
Outerchr14:89093258..89185843hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382809
hg192809
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257852, nssv14257854, nssv14257851, nssv14257853, nssv14257849, nssv14257847, nssv14257848, nssv14257846, nssv14257850
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEML5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238536
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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