A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449754



Internal ID227982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209225800..209225871hg38UCSC Ensembl
chr1:209399145..209399216hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895720
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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