A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943556



Internal ID22719006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125924549..125924610hg38UCSC Ensembl
chr12:126409095..126409156hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368345
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943556
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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