A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869751



Internal ID22644686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219914019..219942110hg38UCSC Ensembl
chr1:220087361..220115452hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3828092
hg1928092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368826
Samples
Known GenesRNU5F-1, SLC30A10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869751
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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