A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228419



Internal ID22370605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112151069..112166955hg38UCSC Ensembl
Outerchr3:111869916..111885802hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg389364
hg199364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272243, nssv14272240, nssv14272247, nssv14272245, nssv14272239, nssv14272246, nssv14272241, nssv14272244, nssv14272242
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC9C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228419
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