A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222240



Internal ID22366376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2431285..2443732hg38UCSC Ensembl
Outerchr1:2362724..2375171hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381592
hg191592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35n152
Supporting Variantsnssv14260264, nssv14260262, nssv14260263
SamplesNA19238, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222240
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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