A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706758



Internal ID130424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2240247..2240310hg38UCSC Ensembl
chr16:2290248..2290311hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532833
Supporting Variants
Samples
Known GenesECI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706758
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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