A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708048



Internal ID131714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29289987..29293025hg38UCSC Ensembl
chr16:29301308..29304346hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383039
hg193039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527461
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006244


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