A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206106



Internal ID22354698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:87338439..87412065hg38UCSC Ensembl
Outerchr5:86634256..86707882hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3873627
hg1973627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274693
SamplesHG00732
Known GenesCCNH, RASA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206106
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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