A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4732185



Internal ID20508108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45775383..45776360hg38UCSC Ensembl
chr19:46278641..46279618hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276831
Samples
Known GenesDMPK
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4732185
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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