A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394380



Internal ID173812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244847071..244847122hg38UCSC Ensembl
chr1:245010373..245010424hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897720
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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