A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518027



Internal ID294424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68893715..69642424hg38UCSC Ensembl
chr17:66889856..67638565hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38748710
hg19748710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714241
Samples
Known GenesABCA10, ABCA5, ABCA6, ABCA8, ABCA9, MAP2K6, MIR4524A, MIR4524B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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