A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282886



Internal ID22220423
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245637
Supporting Variants
SamplesHG00733
Known GenesFAM171A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282886
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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