A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422986



Internal ID22480856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11069670..11073145hg38UCSC Ensembl
chr6:11069903..11073378hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg383476
hg193476
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904513
Supporting Variants
Samples
Known GenesELOVL2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422986
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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