A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048232



Internal ID21957465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156735534..156735534hg38UCSC Ensembl
chr1:156705326..156705326hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522500
Samples
Known GenesRRNAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048232
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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