A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983886



Internal ID21893229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3842372..3887278hg38UCSC Ensembl
chr1:3758936..3803842hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3844907
hg1944907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17528263
Samples
Known GenesCEP104, DFFB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983886
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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