A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221153



Internal ID22365635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23917818..23928238hg38UCSC Ensembl
Outerchr1:24244308..24254728hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3879032
hg1979032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275924, nssv14261420
SamplesNA19238, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221153
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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