A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549278



Internal ID20922446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46464307..46587827hg38UCSC Ensembl
chr21:47884220..48007740hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38123521
hg19123521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204213
Samples
Known GenesDIP2A, DIP2A-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549278
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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