A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055250



Internal ID104670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42084121..42084201hg38UCSC Ensembl
chr12:42477923..42478003hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504776
Supporting Variants
Samples
Known GenesGXYLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055250
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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