A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560872



Internal ID333867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12819676..12820701hg38UCSC Ensembl
chr12:12972610..12973635hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053225
Samples
Known GenesDDX47
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560872
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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