A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206591



Internal ID22355109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54389118..54442196hg38UCSC Ensembl
Outerchr6:54253916..54306994hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3853079
hg1953079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276699
SamplesHG00512
Known GenesTINAG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206591
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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