A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534480



Internal ID310279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95037754..95037772hg38UCSC Ensembl
chr12:95431530..95431548hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684223
Samples
Known GenesNR2C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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