A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933982



Internal ID22709301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36860358..36861735hg38UCSC Ensembl
chr13:37434495..37435872hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381378
hg191378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373325
Samples
Known GenesSMAD9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933982
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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