A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604458



Internal ID21553127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29885164..29885317hg38UCSC Ensembl
chr22:30281153..30281306hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129322
SamplesHG01505
Known GenesMTMR3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604458
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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