A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938048



Internal ID22713425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50127318..50132151hg38UCSC Ensembl
chr18:47653688..47658521hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384834
hg194834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379874
Samples
Known GenesMYO5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938048
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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