A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194569



Internal ID20761609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:985742..1336925hg38UCSC Ensembl
chr17:888982..1240219hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38351184
hg19351238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507683
Supporting Variants
Samples
Known GenesABR, BHLHA9, MIR3183, TIMM22, TUSC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194569
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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