A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994836



Internal ID63987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20120888..20126275hg38UCSC Ensembl
chr7:20160511..20165898hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg385388
hg195388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462733
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994836
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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