A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245724



Internal ID22376224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129381623..129428146hg38UCSC Ensembl
Outerchr9:132143902..132190425hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382582
hg192582
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289640, nssv14289637, nssv14289641, nssv14289639, nssv14289636, nssv14289642, nssv14289638, nssv14289635, nssv14289643
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245724
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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