A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530471



Internal ID306455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59585000..59592500hg38UCSC Ensembl
chr17:57662361..57669861hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713881
Samples
Known GenesDHX40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530471
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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