A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217663



Internal ID22363248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230993075..231036269hg38UCSC Ensembl
Outerchr2:231857790..231900984hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266185, nssv14266183, nssv14266186, nssv14266188, nssv14266182, nssv14266189, nssv14266187, nssv14266184, nssv14266190
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSPATA3, SPATA3-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217663
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