A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708254



Internal ID131920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74553721..74567744hg38UCSC Ensembl
chr16:74587619..74601642hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3814024
hg1914024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532191
Supporting Variants
Samples
Known GenesGLG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708254
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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