A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943897



Internal ID22719353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50231749..50238198hg38UCSC Ensembl
chr18:47758119..47764568hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386450
hg196450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377391
Samples
Known GenesCCDC11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943897
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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