A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974438



Internal ID22749373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128942738..128942738hg38UCSC Ensembl
chr12:129427283..129427283hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357958
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974438
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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