A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955105



Internal ID22730328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240252953..240252953hg38UCSC Ensembl
chr1:240416253..240416253hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353596
Samples
Known GenesFMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955105
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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