A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6058256



Internal ID21967490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45770201..45770252hg38UCSC Ensembl
chr19:46273459..46273510hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17635197
Samples
Known GenesDMPK
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6058256
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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