A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183262



Internal ID20750302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59148044..59252439hg38UCSC Ensembl
chr17:57225405..57329800hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38104396
hg19104396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6528308
Supporting Variants
Samples
Known GenesGDPD1, MIR301A, PRR11, SKA2, SMG8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183262
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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