A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917841



Internal ID22693062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1939653..2031154hg38UCSC Ensembl
chr8:1887819..1979320hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3891502
hg1991502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438054
Samples
Known GenesARHGEF10, KBTBD11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917841
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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