A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522418



Internal ID298687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78267624..78267688hg38UCSC Ensembl
chr17:76263705..76263769hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714843
Samples
Known GenesLOC100996291
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522418
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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