A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433916



Internal ID212611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21489915..21494875hg38UCSC Ensembl
chr1:21816408..21821368hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384961
hg194961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900054
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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