A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404105



Internal ID183462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44351855..44351906hg38UCSC Ensembl
chr5:44351957..44352008hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965410
Samples
Known GenesFGF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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