A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503070



Internal ID279915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4750251..4764110hg38UCSC Ensembl
chr12:4859417..4873276hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3813860
hg1913860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052756
Samples
Known GenesGALNT8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503070
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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