A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499565



Internal ID276533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47877047..47877110hg38UCSC Ensembl
chr12:48270830..48270893hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056850
Samples
Known GenesVDR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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