A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975334



Internal ID22750269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125282060..125282060hg38UCSC Ensembl
chr12:125766606..125766606hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369482
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975334
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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