A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506311



Internal ID283060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30890766..30892709hg38UCSC Ensembl
chr14:31359972..31361915hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381944
hg191944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694936
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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