A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941086



Internal ID22716504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55729122..55729179hg38UCSC Ensembl
chr12:56122906..56122963hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367794
Samples
Known GenesCD63
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941086
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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