A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497639



Internal ID274665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57103443..57103845hg38UCSC Ensembl
chr12:57497226..57497628hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057811
Samples
Known GenesSTAT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497639
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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