A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058739



Internal ID107019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52030717..52031997hg38UCSC Ensembl
chr12:52424501..52425781hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509577
Supporting Variants
Samples
Known GenesNR4A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058739
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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