A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406787



Internal ID186124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30971208..30971258hg38UCSC Ensembl
chr1:31444055..31444105hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901308
Samples
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406787
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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