A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890930



Internal ID22665961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143750434..143750654hg38UCSC Ensembl
chr5:143129999..143130219hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422561
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890930
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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