A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404196



Internal ID183552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223708232..223708283hg38UCSC Ensembl
chr1:223895934..223895985hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896026
Samples
Known GenesCAPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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