A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946775



Internal ID22722271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101992040..101992185hg38UCSC Ensembl
chr13:102644390..102644535hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362319
Samples
Known GenesFGF14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946775
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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