A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965539



Internal ID22740474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224704069..224704069hg38UCSC Ensembl
chr1:224891771..224891771hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350860
Samples
Known GenesCNIH3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965539
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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