A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413416



Internal ID22471286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43479000..43482325hg38UCSC Ensembl
chr5:43479102..43482427hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383326
hg193326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893828
Supporting Variants
Samples
Known GenesC5orf28
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413416
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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