A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476456



Internal ID254066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108668779..108676779hg38UCSC Ensembl
chr7:108309223..108317223hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000294
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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