A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930973



Internal ID22706249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123593569..123595694hg38UCSC Ensembl
chr12:124078116..124080241hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382126
hg192126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360000
Samples
Known GenesTMED2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930973
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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