A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912093



Internal ID22687309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132561032..132570197hg38UCSC Ensembl
chr8:133573279..133582445hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg389166
hg199167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449328
Samples
Known GenesHPYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912093
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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