A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222704



Internal ID22366694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:5227862..5238851hg38UCSC Ensembl
Outerchr3:5269547..5280536hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg382786
hg192786
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270927, nssv14270926, nssv14270925
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222704
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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