A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522982



Internal ID299233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50017379..50017751hg38UCSC Ensembl
chr17:48094743..48095115hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724684
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522982
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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