A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530735



Internal ID306707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57084688..57093530hg38UCSC Ensembl
chr17:55162049..55170891hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388843
hg198843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724842
Samples
Known GenesAKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530735
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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