A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428281



Internal ID207159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1316834..1317135hg38UCSC Ensembl
chr1:1252214..1252515hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895781
Samples
Known GenesCPSF3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428281
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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