A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217307



Internal ID22363011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126359309..126389493hg38UCSC Ensembl
Outerchr3:126078152..126108336hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381820
hg191820
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272431, nssv14272434, nssv14272430, nssv14272433, nssv14272432
SamplesNA19238, NA19239, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217307
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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