A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199278



Internal ID22348885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:108640677..108666128hg38UCSC Ensembl
Outerchr3:108359524..108384975hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3825452
hg1925452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271504
SamplesHG00731
Known GenesDZIP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199278
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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