A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876518



Internal ID22651479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121095828..121096132hg38UCSC Ensembl
chr1:149762749..149763053hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359926
Samples
Known GenesFCGR1A, HIST2H2BF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876518
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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