A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6420300



Internal ID21077853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22531188..22580597hg38UCSC Ensembl
chr8:22388701..22438110hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3849410
hg1949410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18227300
Samples
Known GenesPDLIM2, PPP3CC, SORBS3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6420300
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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