A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886482



Internal ID22661469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226646558..226647045hg38UCSC Ensembl
chr1:226834259..226834746hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350829
Samples
Known GenesITPKB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886482
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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