A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426864



Internal ID205779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119709506..119718338hg38UCSC Ensembl
chr1:120252129..120260961hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg388833
hg198833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889009
Samples
Known GenesPHGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426864
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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