A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190610



Internal ID22341450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248763682..248799250hg38UCSC Ensembl
Outerchr1:249058211..249093449hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3835569
hg1935239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254744
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190610
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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