A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192581



Internal ID22343141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54784423..54822551hg38UCSC Ensembl
Outerchr4:55650589..55688717hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3838129
hg1938129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275088
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192581
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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