A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052541



Internal ID21961774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55078448..55078519hg38UCSC Ensembl
chr19:55589816..55589887hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17636427
Samples
Known GenesEPS8L1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052541
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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