A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735803



Internal ID159469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38447958..38448000hg38UCSC Ensembl
chr8:38305476..38305518hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402898
Supporting Variants
Samples
Known GenesFGFR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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