A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208493



Internal ID22356728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45575637..45589521hg38UCSC Ensembl
Outerchr1:46041309..46055193hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3813885
hg1913885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257623
SamplesHG00514
Known GenesNASP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208493
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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