A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213104



Internal ID22360153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206921968..206931163hg38UCSC Ensembl
Outerchr1:207095313..207104508hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264401, nssv14264403, nssv14264402, nssv14264404, nssv14264400, nssv14264406, nssv14264405, nssv14264407
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFAIM3, PIGR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213104
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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