A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707630



Internal ID131296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29806894..29806974hg38UCSC Ensembl
chr16:29818215..29818295hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525381
Supporting Variants
Samples
Known GenesMAZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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