A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945537



Internal ID22721016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51507315..51507774hg38UCSC Ensembl
chr14:51974033..51974492hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385105
Samples
Known GenesFRMD6, FRMD6-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945537
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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