A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916485



Internal ID22691704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22342032..22350520hg38UCSC Ensembl
chr8:22199545..22208033hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg388489
hg198489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429909
Samples
Known GenesPIWIL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916485
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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