A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968483



Internal ID22743418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10009533..10009533hg38UCSC Ensembl
chr12:10162132..10162132hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364067
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968483
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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