A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18074478



Internal ID20641518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44928553..44933206hg38UCSC Ensembl
chr22:45324433..45329086hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384654
hg194654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6536480
Supporting Variants
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18074478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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