A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916079



Internal ID22691298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5383282..5383357hg38UCSC Ensembl
chr12:5492448..5492523hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366827
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916079
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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