A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982278



Internal ID21891621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204346270..204347702hg38UCSC Ensembl
chr1:204315398..204316830hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381433
hg191433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533081
Samples
Known GenesPLEKHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982278
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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