A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478310



Internal ID255869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34981633..34981901hg38UCSC Ensembl
chr7:35021245..35021513hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994411
Samples
Known GenesDPY19L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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