A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543899



Internal ID318113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224301557..224301592hg38UCSC Ensembl
chr1:224489259..224489294hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897213
Samples
Known GenesNVL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543899
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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