A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199446



Internal ID22349029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67618018..67675245hg38UCSC Ensembl
Outerchr1:68083701..68140928hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3857228
hg1957228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258272
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199446
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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