A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225979



Internal ID22368943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40097807..40147822hg38UCSC Ensembl
Outerchr19:40603714..40653729hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3850016
hg1950016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262523, nssv14262522, nssv14262521, nssv14262524
SamplesNA19238, NA19239, HG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225979
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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