A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498442



Internal ID20871652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39387510..39531174hg38UCSC Ensembl
chr17:37543763..37687427hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38143665
hg19143665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194100
Samples
Known GenesCDK12, FBXL20, MED1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498442
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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