A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999464



Internal ID21908807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35696780..35697287hg38UCSC Ensembl
chr5:35696882..35697389hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17551330
Samples
Known GenesSPEF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999464
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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