A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5867306



Internal ID22642241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128974989..128980363hg38UCSC Ensembl
chr12:129459534..129464908hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385375
hg195375
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17468507, nssv17461407
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5867306
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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