A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902052



Internal ID22677206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73787019..73790752hg38UCSC Ensembl
chr5:73082844..73086577hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383734
hg193734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427204
Samples
Known GenesARHGEF28
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902052
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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