A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884782



Internal ID22659765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18342741..18344113hg38UCSC Ensembl
chr1:18669235..18670607hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381373
hg191373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350110
Samples
Known GenesIGSF21
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884782
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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