A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221499



Internal ID22365869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:74544260..74580100hg38UCSC Ensembl
Outerchr16:74578158..74613998hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3835841
hg1935841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260287
SamplesHG00731
Known GenesGLG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221499
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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