A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6081815



Internal ID21991048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53012394..53012394hg38UCSC Ensembl
chr12:53406178..53406178hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610627
Samples
Known GenesEIF4B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6081815
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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