A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513066



Internal ID289599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11219202..11227021hg38UCSC Ensembl
chr12:11372102..11379914hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg387820
hg197813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053124
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513066
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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