A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224101



Internal ID22367642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4603844..4620818hg38UCSC Ensembl
Outerchr19:4603856..4620830hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3816975
hg1916975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263317
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224101
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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