A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523712



Internal ID299937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:52398541..52398998hg38UCSC Ensembl
chr17:50475901..50476358hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713648
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523712
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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