A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506694



Internal ID283434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110722697..110724657hg38UCSC Ensembl
chr12:111160502..111162462hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381961
hg191961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684445
Samples
Known GenesPPP1CC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506694
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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