A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177807



Internal ID20744847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59986401..59988400hg38UCSC Ensembl
chr17:58063762..58065761hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529603
Supporting Variants
Samples
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177807
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00228


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