A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926734



Internal ID22701961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100706805..100706885hg38UCSC Ensembl
chr8:101719033..101719113hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436291
Samples
Known GenesPABPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926734
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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