A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704350



Internal ID128016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66704197..66712155hg38UCSC Ensembl
chr15:66996535..67004493hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg387959
hg197959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521116
Supporting Variants
Samples
Known GenesSMAD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704350
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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