A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498543



Internal ID275533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29563870..29563990hg38UCSC Ensembl
chr14:30033076..30033196hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695476
Samples
Known GenesMIR548AI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498543
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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