A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943496



Internal ID22718945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23319276..23319459hg38UCSC Ensembl
chr18:20899240..20899423hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381773
Samples
Known GenesTMEM241
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943496
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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