A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556000



Internal ID329147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121979753..121981247hg38UCSC Ensembl
chr12:122417659..122419153hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381495
hg191495
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685054
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556000
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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