A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511687



Internal ID288259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24936044..24978997hg38UCSC Ensembl
chr12:25088978..25131931hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3842954
hg1942954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057332
Samples
Known GenesBCAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511687
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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