A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508138



Internal ID20881436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28308852..28403730hg38UCSC Ensembl
chr17:26635878..26730748hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3894879
hg1994871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191978
Samples
Known GenesIFT20, MIR4723, POLDIP2, SARM1, SEBOX, SLC46A1, TMEM199, TMEM97, TNFAIP1, VTN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508138
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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