A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377247



Internal ID22435117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:44539090..44547512hg38UCSC Ensembl
chr15:44831288..44839710hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg388423
hg198423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942756
Supporting Variants
Samples
Known GenesEIF3J
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377247
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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