A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250033



Internal ID22377431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:48664748..48681771hg38UCSC Ensembl
Outerchr10:49872793..49889816hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252738
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250033
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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