A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976707



Internal ID51859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172104513..172104571hg38UCSC Ensembl
chr5:171531517..171531575hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458453
Supporting Variants
Samples
Known GenesSTK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976707
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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