A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504481



Internal ID281282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42708062..42708130hg38UCSC Ensembl
chr12:43101864..43101932hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055294
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504481
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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