A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996298



Internal ID64983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42752720..42814191hg38UCSC Ensembl
chr7:42792319..42853790hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3861472
hg1961472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488468
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996298
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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