A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5880914



Internal ID22655885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17594176..17594260hg38UCSC Ensembl
chr1:17920671..17920755hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362524
Samples
Known GenesARHGEF10L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5880914
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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