A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531345



Internal ID307306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13505208..13518888hg38UCSC Ensembl
chr17:13408525..13422205hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3813681
hg1913681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711555
Samples
Known GenesHS3ST3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531345
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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