A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833698



Internal ID22608633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69334274..69335273hg38UCSC Ensembl
chr2:69561406..69562405hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17487989
Samples
Known GenesGFPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833698
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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