A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542379



Internal ID316804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37982045..37982084hg38UCSC Ensembl
chr1:38447717..38447756hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903769
Samples
Known GenesSF3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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