A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593028



Internal ID21541613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44982385..44982686hg38UCSC Ensembl
chr17:43059753..43060054hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086073
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593028
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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