A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058738



Internal ID107018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52029391..52032110hg38UCSC Ensembl
chr12:52423175..52425894hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382720
hg192720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504920
Supporting Variants
Samples
Known GenesNR4A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058738
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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