A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432562



Internal ID211300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103219697..103330673hg38UCSC Ensembl
chr1:103685253..103785265hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38110977
hg19100013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907587
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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