A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968474



Internal ID22743409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116145279..116145279hg38UCSC Ensembl
chr12:116583084..116583084hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368745
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968474
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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