A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513153



Internal ID289685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42830542..42830609hg38UCSC Ensembl
chr15:43122740..43122807hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701977
Samples
Known GenesTTBK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513153
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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