A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213582



Internal ID22360485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30382436..30411363hg38UCSC Ensembl
Outerchr8:30239952..30268879hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281007
SamplesHG00513
Known GenesRBPMS, RBPMS-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213582
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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