A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519558



Internal ID295907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17828959..17832650hg38UCSC Ensembl
chr17:17732273..17735964hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383692
hg193692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711876
Samples
Known GenesSREBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519558
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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