A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232078



Internal ID22372416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87857802..87883038hg38UCSC Ensembl
Outerchr9:90472717..90497953hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9645n152
Supporting Variantsnssv14283517, nssv14283516, nssv14283518, nssv14283515, nssv14283519
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesLOC392364, SPATA31E1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232078
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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