A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235304



Internal ID22373260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138198904..138215285hg38UCSC Ensembl
Outerchr8:139211147..139227528hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381547
hg191547
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280688, nssv14280693, nssv14280696, nssv14280689, nssv14280695, nssv14280694, nssv14280692, nssv14280691, nssv14280690
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAM135B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235304
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