A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887853



Internal ID22662850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134724100..134724151hg38UCSC Ensembl
chr5:134059790..134059841hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424415
Samples
Known GenesSEC24A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887853
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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