A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993827



Internal ID63335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16472441..16477753hg38UCSC Ensembl
chr7:16512066..16517378hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg385313
hg195313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473357
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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