A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706292



Internal ID129958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27849643..27854510hg38UCSC Ensembl
chr16:27860964..27865831hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg384868
hg194868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527788
Supporting Variants
Samples
Known GenesGSG1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706292
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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