A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214640



Internal ID22361234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:18659733..18678110hg38UCSC Ensembl
Outerchr3:18701225..18719602hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272058
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214640
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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