A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873703



Internal ID22648651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161061412..161065234hg38UCSC Ensembl
chr1:161031202..161035024hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383823
hg193823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351786
Samples
Known GenesARHGAP30
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873703
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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