A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430107



Internal ID208931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28578287..28578945hg38UCSC Ensembl
chr1:28904799..28905457hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903485
Samples
Known GenesSNHG12, SNORD99, TRNAU1AP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430107
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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