A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708055



Internal ID131721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29386486..29478486hg38UCSC Ensembl
chr16:29397807..29489807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3892001
hg1992001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146109
Supporting Variants
Samples
Known GenesBOLA2, BOLA2B, LOC388242, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.09252


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