A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941054



Internal ID22716472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122336747..122340750hg38UCSC Ensembl
chr12:122821294..122825297hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384004
hg194004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364172
Samples
Known GenesCLIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941054
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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