A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456247



Internal ID234316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76790008..76839920hg38UCSC Ensembl
chr5:76085833..76135745hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3849913
hg1949913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968410
Samples
Known GenesF2RL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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