A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944733



Internal ID22720202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21389118..21391868hg38UCSC Ensembl
chr18:18969079..18971829hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg382751
hg192751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379222
Samples
Known GenesGREB1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944733
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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