A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517182



Internal ID293608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45185859..45193525hg38UCSC Ensembl
chr17:43263226..43270892hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387667
hg197667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713355
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517182
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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