A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901948



Internal ID22677101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119320875..119323485hg38UCSC Ensembl
chr3:119039722..119042332hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382611
hg192611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392966
Samples
Known GenesARHGAP31
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901948
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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