A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925496



Internal ID22700723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38458499..38460140hg38UCSC Ensembl
chr8:38316017..38317658hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381642
hg191642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432176
Samples
Known GenesFGFR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925496
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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