A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738880



Internal ID20514851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32824599..32833628hg38UCSC Ensembl
chr17:31151617..31160646hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389030
hg199030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295518
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4738880
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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