A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204265



Internal ID22353143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:646075..662096hg38UCSC Ensembl
Outerchr4:639864..655885hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3816022
hg1916022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273851, nssv14273852
SamplesNA19239, NA19240
Known GenesPDE6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204265
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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