A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712301



Internal ID135967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27637980..27687980hg38UCSC Ensembl
chr17:25965006..26015006hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145495
Supporting Variants
Samples
Known GenesLGALS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712301
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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