A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483633



Internal ID261068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38433471..38434915hg38UCSC Ensembl
chr8:38290989..38292433hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381445
hg191445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010676
Samples
Known GenesFGFR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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