A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530843



Internal ID306813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54955699..54958830hg38UCSC Ensembl
chr17:53033060..53036191hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383132
hg193132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724749
Samples
Known GenesCOX11, TOM1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530843
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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