A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707670



Internal ID131336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30308000..30327000hg38UCSC Ensembl
chr16:30319321..30338321hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3819001
hg1919001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515895
Supporting Variants
Samples
Known GenesLOC595101
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707670
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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