A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204656



Internal ID20771696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38814170..38821151hg38UCSC Ensembl
chr22:39210175..39217156hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg386982
hg196982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6538003
Supporting Variants
Samples
Known GenesNPTXR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204656
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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