A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202683



Internal ID22351810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143408487..143420405hg38UCSC Ensembl
Outerchr1:148932588..148944529hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3811919
hg1911942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256330
SamplesHG00512
Known GenesLOC101929780, LOC645166
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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