A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988979



Internal ID60076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149355632..149364578hg38UCSC Ensembl
chr6:149676768..149685714hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg388947
hg198947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473425
Supporting Variants
Samples
Known GenesTAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988979
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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