A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5864495



Internal ID22639430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123593899..123596037hg38UCSC Ensembl
chr12:124078446..124080584hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382139
hg192139
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv459n209
Supporting Variantsnssv17462213, nssv17450265
Samples
Known GenesTMED2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5864495
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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