A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485519



Internal ID21143072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128866622..128872156hg38UCSC Ensembl
chr12:129351167..129356701hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385535
hg195535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997570
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485519
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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