A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230862



Internal ID22372052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65798555..65853926hg38UCSC Ensembl
Outerchr9:42779142..42834504hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9574n152
Supporting Variantsnssv14253128, nssv14253127
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230862
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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