A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875248



Internal ID22650206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235116202..235116931hg38UCSC Ensembl
chr1:235279517..235280246hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355871
Samples
Known GenesTOMM20
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875248
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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