A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524542



Internal ID300744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40541244..40552315hg38UCSC Ensembl
chr17:38697496..38708567hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811072
hg1911072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713113
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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