A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548765



Internal ID20921947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50310770..50396235hg38UCSC Ensembl
chr22:50749199..50834664hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3885466
hg1985466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074603
Samples
Known GenesDENND6B, PPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548765
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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