A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190467



Internal ID22341325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55442297..55468314hg38UCSC Ensembl
Outerchr1:55907970..55933987hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3826018
hg1926018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258974
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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