A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17508405



Internal ID22566355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8076359..8078008hg38UCSC Ensembl
chr6:8076592..8078241hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5846103
Supporting Variants
Samples
Known GenesEEF1E1, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17508405
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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