A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385105



Internal ID22442975
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 StatusS
Merged Variantsnsv5945537
Supporting Variants
Samples
Known GenesFRMD6, FRMD6-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385105
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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