A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6045430



Internal ID21954696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12760040..12766609hg38UCSC Ensembl
chr19:12870854..12877423hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386570
hg196570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17626340
Samples
Known GenesHOOK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6045430
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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