A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218095



Internal ID22363556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6330104..6334277hg38UCSC Ensembl
Outerchr19:6330115..6334288hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384174
hg194174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263299
SamplesNA19240
Known GenesACER1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218095
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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