A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975746



Internal ID22750681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13500445..13500445hg38UCSC Ensembl
chr12:13653379..13653379hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360467
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975746
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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