A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995904



Internal ID64709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54101634..54145483hg38UCSC Ensembl
chr7:54169327..54213176hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3843850
hg1943850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492048
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995904
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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