A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501314



Internal ID278216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128963613..128968364hg38UCSC Ensembl
chr12:129448158..129452909hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384752
hg194752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685360
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501314
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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