A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420716



Internal ID199811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157524487..157527789hg38UCSC Ensembl
chr1:157494277..157497579hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383303
hg193303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890981
Samples
Known GenesFCRL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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