A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139789



Internal ID338978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233700317..233700368hg38UCSC Ensembl
chr1:233836063..233836114hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897909
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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