A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421188



Internal ID200271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167043969..167045487hg38UCSC Ensembl
chr1:167013206..167014724hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891593
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421188
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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