A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885505



Internal ID22660489
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 StatusM
Merged Variants
Supporting Variantsnssv17385891
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885505
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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