A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236193



Internal ID22373508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:131355464..131360790hg38UCSC Ensembl
Outerchr9:134230851..134236177hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381364
hg191364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289659, nssv14289655, nssv14289658, nssv14289656, nssv14289657, nssv14289654, nssv14289653
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236193
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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