A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984352



Internal ID21893695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48183150..48183216hg38UCSC Ensembl
chr1:48648822..48648888hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17528518
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984352
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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