A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224950



Internal ID22368231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26902955..26908957hg38UCSC Ensembl
Outerchr1:27229446..27235448hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382827
hg192827
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261130, nssv14261132, nssv14261129, nssv14261131
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224950
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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