A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058551



Internal ID106893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51054805..51055339hg38UCSC Ensembl
chr12:51448588..51449122hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510911
Supporting Variants
Samples
Known GenesLETMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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