A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892147



Internal ID22667192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151745838..151757948hg38UCSC Ensembl
chr3:151463626..151475736hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3812111
hg1912111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429556
Samples
Known GenesAADACL2, MIR548H2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892147
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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