A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976490



Internal ID22751425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109449831..109449831hg38UCSC Ensembl
chr12:109887636..109887636hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364293
Samples
Known GenesKCTD10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976490
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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