A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995591



Internal ID64500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47544968..47547593hg38UCSC Ensembl
chr7:47584566..47587191hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg382626
hg192626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480430
Supporting Variants
Samples
Known GenesTNS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995591
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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