A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042598



Internal ID21951914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233182980..233182980hg38UCSC Ensembl
chr1:233318726..233318726hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532751
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042598
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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