A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530551



Internal ID306530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39681262..39683354hg38UCSC Ensembl
chr17:37837515..37839607hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713058
Samples
Known GenesPGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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