A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506676



Internal ID283416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21412328..21433587hg38UCSC Ensembl
chr12:21565262..21586521hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3821260
hg1921260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053978
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506676
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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