A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213426



Internal ID22360379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235023695..235027698hg38UCSC Ensembl
Outerchr1:235159442..235163445hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269817
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213426
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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