A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927745



Internal ID22702975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4983292..5000895hg38UCSC Ensembl
chr18:4983291..5000894hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3817604
hg1917604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375216
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927745
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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