A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494661



Internal ID271798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12088747..12095219hg38UCSC Ensembl
chr12:12241681..12248153hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386473
hg196473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055930
Samples
Known GenesBCL2L14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494661
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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