A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431789



Internal ID21393791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55388217..55391216hg38UCSC Ensembl
chr12:55782001..55785000hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15754683
SamplesBTQ016
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431789
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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