A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921088



Internal ID22696311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51761542..51762712hg38UCSC Ensembl
chr8:52674102..52675272hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381171
hg191171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448325
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921088
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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