A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428329



Internal ID22486199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171415444..171420060hg38UCSC Ensembl
chr5:170842448..170847064hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384617
hg194617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894466
Supporting Variants
Samples
Known GenesFGF18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428329
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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