A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6091131



Internal ID22000364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128977458..128977458hg38UCSC Ensembl
chr12:129462003..129462003hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609839
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6091131
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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