A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499384



Internal ID276358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74354691..74356038hg38UCSC Ensembl
chr12:74748471..74749818hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689158
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499384
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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