A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919390



Internal ID22694612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2735406..2787870hg38UCSC Ensembl
chr12:2844572..2897036hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3852465
hg1952465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365231
Samples
Known GenesLOC283440
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919390
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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