A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958626



Internal ID22733689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48879474..48879474hg38UCSC Ensembl
chr1:49345146..49345146hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373793
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958626
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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