A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246820



Internal ID22376307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:101282266..101299321hg38UCSC Ensembl
Outerchr10:103042023..103059078hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252730, nssv14252729
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246820
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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