A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942250



Internal ID22717685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42542025..42542186hg38UCSC Ensembl
chr17:40694043..40694204hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371905
Samples
Known GenesNAGLU
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942250
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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