A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2792280



Internal ID21237618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131998880..131998880hg38UCSC Ensembl
chr12:132483425..132483425hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695621
Samples
Known GenesEP400
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2792280
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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