A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246000



Internal ID22376296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:118957628..118979330hg38UCSC Ensembl
Outerchr10:120717140..120738842hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253493
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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