A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982419



Internal ID21891762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204552364..204552454hg38UCSC Ensembl
chr1:204521492..204521582hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530811
Samples
Known GenesMDM4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982419
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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