A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941725



Internal ID22717154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102142957..102143043hg38UCSC Ensembl
chr12:102536735..102536821hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363286
Samples
Known GenesPARPBP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941725
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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