A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6425189



Internal ID21082742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2057430..2060831hg38UCSC Ensembl
chr8:2005548..2008951hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg383402
hg193404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18166005
Samples
Known GenesMYOM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6425189
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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