A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945608



Internal ID22721088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105004617..105007173hg38UCSC Ensembl
chr12:105398395..105400951hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382557
hg192557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354661
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945608
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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