A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228657



Internal ID22370774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194941227..194951050hg38UCSC Ensembl
Outerchr3:194661956..194671779hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271425, nssv14271423, nssv14271424
SamplesNA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228657
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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