A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502842



Internal ID279694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113409484..113409586hg38UCSC Ensembl
chr12:113847289..113847391hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684572
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502842
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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