A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234678



Internal ID22373095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:74965032..74994204hg38UCSC Ensembl
Outerchr9:77579948..77609120hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg383563
hg193563
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253115, nssv14253116, nssv14253118, nssv14253117, nssv14253114, nssv14253113
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesC9orf41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234678
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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