A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433877



Internal ID212576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172383652..172383729hg38UCSC Ensembl
chr1:172352792..172352869hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891953
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433877
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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