A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245637



Internal ID22376202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15205407..15213117hg38UCSC Ensembl
Outerchr10:15247406..15255116hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383804
hg193804
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282886, nssv14282883, nssv14282887, nssv14282888, nssv14282884, nssv14282882, nssv14282885
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesFAM171A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245637
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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