A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901457



Internal ID22676608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112323801..112365881hg38UCSC Ensembl
chr5:111659498..111701578hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3842081
hg1942081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414254
Samples
Known GenesEPB41L4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901457
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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