A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953984



Internal ID22729252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31605263..31615927hg38UCSC Ensembl
chr22:32001249..32011913hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3810665
hg1910665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395068
Samples
Known GenesSFI1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953984
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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