A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707259



Internal ID130925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28566486..28628486hg38UCSC Ensembl
chr16:28577807..28639807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3862001
hg1962001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144353
Supporting Variants
Samples
Known GenesCCDC101, SULT1A1, SULT1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707259
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000868


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