A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3951982



Internal ID21372051
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 Variantsnssv15193325
SamplesHG002
Known GenesLOC100287944, POLR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3951982
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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