A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510248



Internal ID286872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67066130..67070716hg38UCSC Ensembl
chr14:67532847..67537433hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384587
hg194587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698248
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510248
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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