A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385891



Internal ID22443761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49991710..49993057hg38UCSC Ensembl
chr1:50457382..50458729hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885505
Supporting Variants
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385891
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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