A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914751



Internal ID22689968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99014152..99015310hg38UCSC Ensembl
chr8:100026380..100027538hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432634
Samples
Known GenesVPS13B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914751
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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