A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471589



Internal ID249321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13752569..13828578hg38UCSC Ensembl
chr7:13792194..13868203hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3876010
hg1976010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993765
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471589
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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