A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374713



Internal ID22600382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52900163..52900251hg38UCSC Ensembl
chr14:53366881..53366969hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931859
Supporting Variants
Samples
Known GenesFERMT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374713
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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