A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993112



Internal ID62866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:17977657..17979583hg38UCSC Ensembl
chr7:18017280..18019206hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381927
hg191927
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458540
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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