A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220128



Internal ID22364921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58728158..58732881hg38UCSC Ensembl
Outerchr1:59193830..59198553hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262371, nssv14262367, nssv14262369, nssv14262366, nssv14262368, nssv14262370
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220128
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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