A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200267



Internal ID22349745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96504542..96580184hg38UCSC Ensembl
Outerchr6:96952418..97028060hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3875643
hg1975643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274788
SamplesHG00731
Known GenesFHL5, UFL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200267
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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