A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212702



Internal ID22359869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50931303..50933173hg38UCSC Ensembl
Outerchr19:51434559..51436429hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg381871
hg191871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263492
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212702
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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