A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416282



Internal ID195513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117777911..117779215hg38UCSC Ensembl
chr1:118320533..118321837hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16888977
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416282
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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