A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504674



Internal ID281471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47139123..47143435hg38UCSC Ensembl
chr12:47532906..47537218hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384313
hg194313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056784
Samples
Known GenesPCED1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504674
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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