A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220296



Internal ID22365030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37443352..37448915hg38UCSC Ensembl
Outerchr1:37908953..37914516hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262130, nssv14262131, nssv14262129, nssv14262132, nssv14262133
SamplesNA19238, NA19239, HG00731, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220296
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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