A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242488



Internal ID22375296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125262092..125273459hg38UCSC Ensembl
Outerchr9:128024371..128035738hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289610, nssv14289607, nssv14289605, nssv14289606, nssv14289609, nssv14289608
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesGAPVD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242488
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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