A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575083



Internal ID21523508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84054868..84055452hg38UCSC Ensembl
chr5:83350687..83351271hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17155493
SamplesHG00512
Known GenesEDIL3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575083
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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