A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450132



Internal ID22508002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47104172..47107615hg38UCSC Ensembl
chr14:47573375..47576818hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg383444
hg193444
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863971
Supporting Variants
Samples
Known GenesMDGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450132
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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