A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970103



Internal ID22745038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53027136..53027136hg38UCSC Ensembl
chr12:53420920..53420920hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352751
Samples
Known GenesEIF4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970103
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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