A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220745



Internal ID22365353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74822937..74831534hg38UCSC Ensembl
Outerchr17:72819076..72827673hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg388598
hg198598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260430
SamplesHG00733
Known GenesTMEM104
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220745
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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