A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508766



Internal ID285448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30069419..30077614hg38UCSC Ensembl
chr14:30538625..30546820hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg388196
hg198196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695498
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508766
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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