A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515578



Internal ID292059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55096616..55106043hg38UCSC Ensembl
chr17:53173977..53183404hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg389428
hg199428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724752
Samples
Known GenesSTXBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515578
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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