A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421018



Internal ID200107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101252887..101256389hg38UCSC Ensembl
chr1:101718443..101721945hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383503
hg193503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906795
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421018
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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