A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871685



Internal ID22646623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183648696..183648799hg38UCSC Ensembl
chr1:183617831..183617934hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367466
Samples
Known GenesAPOBEC4, RGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871685
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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