A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874692



Internal ID22649645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44413847..44417304hg38UCSC Ensembl
chr1:44879519..44882976hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383458
hg193458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381914
Samples
Known GenesRNF220
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874692
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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