A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708991



Internal ID132657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51149783..51149879hg38UCSC Ensembl
chr16:51183694..51183790hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532950
Supporting Variants
Samples
Known GenesSALL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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