A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976331



Internal ID22751266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106497168..106497168hg38UCSC Ensembl
chr12:106890946..106890946hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360015
Samples
Known GenesLOC100287944, POLR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976331
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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