A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244007



Internal ID22375739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143068835..143096942hg38UCSC Ensembl
Outerchr8:144150252..144178359hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386830
hg196830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280996
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244007
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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