A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5867681



Internal ID22642616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226162361..226164102hg38UCSC Ensembl
chr1:226350062..226351803hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381742
hg191742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358731
Samples
Known GenesACBD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5867681
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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