A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942418



Internal ID22717855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23709456..23709954hg38UCSC Ensembl
chr18:21289420..21289918hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374322
Samples
Known GenesLAMA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942418
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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