A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435972



Internal ID214600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244891294..244900777hg38UCSC Ensembl
chr1:245054596..245064079hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg389484
hg199484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897726
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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