A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5880045



Internal ID22655015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240592909..240593423hg38UCSC Ensembl
chr1:240756209..240756723hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365524
Samples
Known GenesGREM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5880045
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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