A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969787



Internal ID47174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133968641..133972396hg38UCSC Ensembl
chr6:134289779..134293534hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg383756
hg193756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467619
Supporting Variants
Samples
Known GenesTBPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969787
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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