A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213885



Internal ID22360692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55938735..55955032hg38UCSC Ensembl
Outerchr1:56404408..56420705hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273059, nssv14273060
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213885
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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