A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6058604



Internal ID21967837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16143093..16146840hg38UCSC Ensembl
chr19:16253903..16257650hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633063
Samples
Known GenesHSH2D
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6058604
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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