A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980004



Internal ID22754939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113813640..113813640hg38UCSC Ensembl
chr12:114251445..114251445hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354513
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980004
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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