A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885539



Internal ID22660523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17768315..17768364hg38UCSC Ensembl
chr1:18094810..18094859hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362158
Samples
Known GenesACTL8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885539
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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