A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875166



Internal ID22650122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226165145..226165206hg38UCSC Ensembl
chr1:226352846..226352907hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352542
Samples
Known GenesACBD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875166
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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