A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418620



Internal ID197783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37963092..37964587hg38UCSC Ensembl
chr1:38428764..38430259hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381496
hg191496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902077
Samples
Known GenesSF3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418620
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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